factor H

Summary

Gene Symbol: factor H
Description: complement factor H
Alias: AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FHL1, HF1, HF2, HUS, complement factor H, H factor 1 (complement), H factor 2 (complement), adrenomedullin binding protein, age-related maculopathy susceptibility 1, beta-1-H-globulin, beta-1H, factor H, factor H-like 1
Species: human

Top Publications

  1. ncbi Associative and structural properties of the region of complement factor H encompassing the Tyr402His disease-related polymorphism and its interactions with heparin
    Anira N Fernando
    Department of Biochemistry and Molecular Biology, Darwin Building, University College London, Gower Street, London WC1E 6BT, UK
    J Mol Biol 368:564-81. 2007
  2. ncbi Predictive value of multiple genetic testing for age-related macular degeneration
    Dominiek D G Despriet
    Arch Ophthalmol 125:1270-1. 2007
  3. pmc Complement control protein factor H: the good, the bad, and the inadequate
    Viviana P Ferreira
    Department of Medical Microbiology and Immunology, College of Medicine, University of Toledo, Toledo, OH 43614, United States
    Mol Immunol 47:2187-97. 2010
  4. pmc Complement factor H polymorphism in age-related macular degeneration
    Robert J Klein
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 308:385-9. 2005
  5. pmc Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
    Benjamin M Neale
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 107:7395-400. 2010
  6. pmc Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables
    Johanna M Seddon
    Ophthalmic Epidemiology and Genetics Service, Tufts University School of Medicine and Tufts Medical Center, Boston, Massachusetts 02111, USA
    Invest Ophthalmol Vis Sci 50:2044-53. 2009
  7. ncbi Complement factor H variant increases the risk of age-related macular degeneration
    Jonathan L Haines
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Science 308:419-21. 2005
  8. doi Complement factor H and high-temperature requirement A-1 genotypes and treatment response of age-related macular degeneration
    Takashi Tsuchihashi
    Department of Ophthalmology, Saitama Medical University, Iruma, Saitama, Japan
    Ophthalmology 118:93-100. 2011
  9. ncbi Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
    Jessica Caprioli
    Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Villa Camozzi, Via Camozzi 3, 24020 Ranica, Italy
    Hum Mol Genet 12:3385-95. 2003
  10. doi Immune evasion of the human pathogenic yeast Candida albicans: Pra1 is a Factor H, FHL-1 and plasminogen binding surface protein
    Shanshan Luo
    Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany
    Mol Immunol 47:541-50. 2009

Research Grants

  1. Baerbel Rohrer; Fiscal Year: 2016
  2. Building a Better AMD Mouse
    Caroline J Zeiss; Fiscal Year: 2010
  3. Rafael Ufret-Vincenty; Fiscal Year: 2016
  4. Wenchao Song; Fiscal Year: 2016
  5. Effect of Zinc in Attaching and Effacing E. coli Infection
    John K Crane; Fiscal Year: 2012
  6. E. coli O157: H7 Vaccine Development
    Alfredo G Torres; Fiscal Year: 2012
  7. Catherine Bowes Rickman; Fiscal Year: 2014
  8. Functional analysis of AMD-associated HTRA1 promoter polymorphism
    Noriko Esumi; Fiscal Year: 2010
  9. Genetic Epidemiology of Age-Related Macular Degeneration
    Debra A Schaumberg; Fiscal Year: 2011
  10. Epigenetic regulation of SOD2 and CFH gene expression in the aging RPE
    Zeljka Smit-McBride; Fiscal Year: 2013

Detail Information

Publications336 found, 100 shown here

  1. ncbi Associative and structural properties of the region of complement factor H encompassing the Tyr402His disease-related polymorphism and its interactions with heparin
    Anira N Fernando
    Department of Biochemistry and Molecular Biology, Darwin Building, University College London, Gower Street, London WC1E 6BT, UK
    J Mol Biol 368:564-81. 2007
    b>Factor H (FH) is a major complement control protein in serum. The seventh short complement regulator (SCR-7) domain of the 20 in FH is associated with age-related macular degeneration through a Tyr402His polymorphism...
  2. ncbi Predictive value of multiple genetic testing for age-related macular degeneration
    Dominiek D G Despriet
    Arch Ophthalmol 125:1270-1. 2007
  3. pmc Complement control protein factor H: the good, the bad, and the inadequate
    Viviana P Ferreira
    Department of Medical Microbiology and Immunology, College of Medicine, University of Toledo, Toledo, OH 43614, United States
    Mol Immunol 47:2187-97. 2010
    ..b>Complement factor H is a soluble complement regulator essential for controlling the alternative pathway in blood and on cell ..
  4. pmc Complement factor H polymorphism in age-related macular degeneration
    Robert J Klein
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 308:385-9. 2005
    ..Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value <10(-7))...
  5. pmc Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
    Benjamin M Neale
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 107:7395-400. 2010
    ..Results implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD...
  6. pmc Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables
    Johanna M Seddon
    Ophthalmic Epidemiology and Genetics Service, Tufts University School of Medicine and Tufts Medical Center, Boston, Massachusetts 02111, USA
    Invest Ophthalmol Vis Sci 50:2044-53. 2009
    ..The joint effects of genetic, ocular, and environmental variables were evaluated and predictive models for prevalence and incidence of AMD were assessed...
  7. ncbi Complement factor H variant increases the risk of age-related macular degeneration
    Jonathan L Haines
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Science 308:419-21. 2005
    ..DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk ..
  8. doi Complement factor H and high-temperature requirement A-1 genotypes and treatment response of age-related macular degeneration
    Takashi Tsuchihashi
    Department of Ophthalmology, Saitama Medical University, Iruma, Saitama, Japan
    Ophthalmology 118:93-100. 2011
    To determine whether there is an association between complement factor H (CFH), high-temperature requirement A-1 (HTRA1), vascular endothelial growth factor (VEGF), and pigment epithelium-derived factor (PEDF) genotypes and response to ..
  9. ncbi Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
    Jessica Caprioli
    Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Villa Camozzi, Via Camozzi 3, 24020 Ranica, Italy
    Hum Mol Genet 12:3385-95. 2003
    Mutations in complement factor H (HF1) gene have been reported in non-Shiga toxin-associated and diarrhoea-negative haemolytic uraemic syndrome (D-HUS)...
  10. doi Immune evasion of the human pathogenic yeast Candida albicans: Pra1 is a Factor H, FHL-1 and plasminogen binding surface protein
    Shanshan Luo
    Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany
    Mol Immunol 47:541-50. 2009
    The pathogenic yeast Candida albicans utilizes human complement regulators, like Factor H and Factor H like protein-1 (FHL-1) for immune evasion. By screening a C...
  11. doi Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy
    Kelvin Y Lee
    Singapore National Eye Centre, Singapore
    Invest Ophthalmol Vis Sci 49:2613-9. 2008
    ..Variants in the C2 and BF genes have been found to confer a significantly reduced risk of AMD. This study was undertaken to determine whether these associations occur in Chinese patients with PCV...
  12. pmc Systemic complement activation in age-related macular degeneration
    Hendrik P N Scholl
    Department of Ophthalmology, University of Bonn, Bonn, Germany
    PLoS ONE 3:e2593. 2008
    ..of activation products C3d, Ba, C3a, C5a, SC5b-9, substrate proteins C3, C4, factor B and regulators factor H and factor D were quantified in patients (n = 112) and controls (n = 67)...
  13. ncbi Structure shows that a glycosaminoglycan and protein recognition site in factor H is perturbed by age-related macular degeneration-linked single nucleotide polymorphism
    Andrew P Herbert
    Edinburgh Biomolecular NMR Unit, School of Chemistry and School of Biological Sciences, University of Edinburgh, West Mains Road, Edinburgh EH9 3JJ, Scotland, United Kingdom
    J Biol Chem 282:18960-8. 2007
    A common single nucleotide polymorphism in the factor H gene predisposes to age-related macular degeneration...
  14. pmc Genetic control of the alternative pathway of complement in humans and age-related macular degeneration
    Laura A Hecker
    Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA
    Hum Mol Genet 19:209-15. 2010
    ..Genetic variation across the genes encoding complement factor H (CFH), factor B (CFB) and component 3 (C3) was determined...
  15. pmc Factor h and properdin recognize different epitopes on renal tubular epithelial heparan sulfate
    Azadeh Zaferani
    Department of Nephrology, University Medical Center, 9713 GZ Groningen, The Netherlands
    J Biol Chem 287:31471-81. 2012
    ..Recently, we showed that properdin binds to tubular heparan sulfates (HS). We now document that factor H also binds to tubular HS, although to a different epitope than properdin...
  16. doi The association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants with two angiographic subtypes of polypoidal choroidal vasculopathy
    Akiko Miki
    Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan
    Ophthalmic Genet 34:146-50. 2013
    To compare the association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV).
  17. pmc Multilocus analysis of age-related macular degeneration
    Julie Bergeron-Sawitzke
    SAIC Frederick, Basic Science Program, Human Genetics Section, Frederick, MD 21702 1201, USA
    Eur J Hum Genet 17:1190-9. 2009
    ..Of the three identified complement loci, variants in complement factor H (CFH) have the highest impact as does an independent locus at 10q26...
  18. pmc Complement factor h is critical in the maintenance of retinal perfusion
    Peter Lundh von Leithner
    Institute of Ophthalmology, University College London, GlaxoSmithKline Medicine sResearch Centre, Stevenage, Herts, United Kingdom
    Am J Pathol 175:412-21. 2009
    ..Recently, age-related macular degeneration was associated with a single-nucleotide substitution of the complement factor H (CFH) gene, part of the alternative pathway of the complement system, a critical element in the innate ..
  19. doi Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss
    P J Francis
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon 97239 4197, USA
    J Med Genet 46:300-7. 2009
    ..This paper examines other AMD susceptibility genes to determine if these genotypes influenced disease progression and treatment response...
  20. doi Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population
    Xiaoqi Liu
    Center for Human Molecular Biology and Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People s Hospital, Sichuan, China
    Retina 30:1177-84. 2010
    Genes in the complement pathway, including complement factor H (CFH), C2/BF, and C3, have been reported to be associated with age-related macular degeneration (AMD)...
  21. doi C-reactive protein levels and complement factor H polymorphism interaction in age-related macular degeneration and its progression
    Luba Robman
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Ophthalmology 117:1982-8. 2010
    To determine the effect of elevated level of C-reactive protein (CRP) and its joint effect with the complement factor H (CFH) polymorphism on prevalent age-related macular degeneration (AMD) and its progression.
  22. doi Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD
    Barbara Kloeckener-Gruissem
    Institute of Medical Molecular Genetics, University of Zurich, Schwerzenbach, Switzerland
    Invest Ophthalmol Vis Sci 52:4694-702. 2011
    ..Genetic factors that influence AMD and that affect the outcome of ranibizumab treatment were sought within a sample of Swiss patients...
  23. pmc Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)
    M A Abrera-Abeleda
    Department of Otolaryngology, Division of Nephrology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
    J Med Genet 43:582-9. 2006
    ..Deficiency of and mutations in the complement factor H (CFH) gene are associated with the development of MPGN II/DDD, suggesting that dysregulation of the ..
  24. ncbi Gpm1p is a factor H-, FHL-1-, and plasminogen-binding surface protein of Candida albicans
    Sophia Poltermann
    Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Beutenbergstrasse 11a, 07745, Jena, Germany
    J Biol Chem 282:37537-44. 2007
    ..Here we identify the first fungal protein that binds Factor H and FHL-1...
  25. doi Prevalence and genomic association of reticular pseudodrusen in age-related macular degeneration
    Naoko Ueda-Arakawa
    Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
    Am J Ophthalmol 155:260-269.e2. 2013
    ..macular degeneration (AMD) using multiple imaging methods, and to investigate the association between reticular pseudodrusen and polymorphisms in complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genes.
  26. pmc Complement factor H genotypes impact risk of age-related macular degeneration by interaction with oxidized phospholipids
    Peter X Shaw
    Molecular Medicine Research Center and Department of Ophthalmology, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan, China
    Proc Natl Acad Sci U S A 109:13757-62. 2012
    The rs1061170T/C variant encoding the Y402H change in complement factor H (CFH) has been identified by genome-wide association studies as being significantly associated with age-related macular degeneration (AMD)...
  27. ncbi The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells
    Andreas P Sjöberg
    Department of Laboratory Medicine, University Hospital Malmo, Lund University, S 205 02 Malmo, Sweden
    J Biol Chem 282:10894-900. 2007
    Recently, a polymorphism in the complement regulator factor H (FH) gene has been associated with age-related macular degeneration...
  28. doi Factor H and factor H-related protein 1 bind to human neutrophils via complement receptor 3, mediate attachment to Candida albicans, and enhance neutrophil antimicrobial activity
    Josephine Losse
    Junior Research Group Cellular Immunobiology, Leibniz Institute for Natural Product Research and Infection Biology, Hans Knöll Institute, Jena, Germany
    J Immunol 184:912-21. 2010
    ..Several human-pathogenic microbes were shown to acquire host complement regulators, such as factor H (CFH), that downregulate complement activation at the microbial surface and protect the pathogens from the ..
  29. doi Determination of a gene and environment risk model for age-related macular degeneration
    Jane Gibson
    Genetic Epidemiology and Bioinformatics Group, University of Southampton, Human Genetics Division, Southampton General Hospital, Southampton, UK
    Br J Ophthalmol 94:1382-7. 2010
    ..In the current study we interrogated the genomic region in linkage disequilibrium (LD) with the SERPING1 gene, and modelled the contribution to disease of known genetic and environmental AMD risk factors...
  30. pmc Complement factor H binds at two independent sites to C-reactive protein in acute phase concentrations
    Azubuike I Okemefuna
    Department of Structural and Molecular Biology, Darwin Building, University College London, Gower Street, London WC1E 6BT, United Kingdom
    J Biol Chem 285:1053-65. 2010
    b>Factor H (FH) regulates the activation of C3b in the alternative complement pathway, both in serum and at host cell surfaces. It is composed of 20 short complement regulator (SCR) domains...
  31. pmc Translational mini-review series on complement factor H: structural and functional correlations for factor H
    C Q Schmidt
    The Edinburgh Biomolecular NMR Unit, Schools of Chemistry and Biological Sciences, University of Edinburgh, Edinburgh, UK
    Clin Exp Immunol 151:14-24. 2008
    The 155-kDa glycoprotein, complement factor H (CFH), is a regulator of complement activation that is abundant in human plasma...
  32. ncbi Complement factor H related proteins in immune diseases
    Christine Skerka
    Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany
    Vaccine 26:I9-14. 2008
    ..This group includes the major alternative pathway regulator, complement factor H (CFH) and five complement factor H related proteins (CFHR)...
  33. ncbi Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk
    Andrea Rivera
    Institute of Human Genetics, University of Regensburg, Germany
    Hum Mol Genet 14:3227-36. 2005
    ..Risk factors include environmental components and genetic determinants. The complement factor H (CFH) has been the first major susceptibility gene for AMD identified within 1q32...
  34. pmc The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration
    Hong Zhang
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
    BMC Med Genet 9:51. 2008
    ..Conditional logistic regression was used to determine significant gene-gene interactions. LRT was used to determine the best fit for each genotypic model tested (additive, dominant or recessive)...
  35. pmc C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes
    Johanna Jakobsdottir
    Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
    PLoS ONE 3:e2199. 2008
    ..Variants within two genes, the complement factor H (CFH) and the poorly characterized LOC387715 (ARMS2), are widely recognized as ARM risk factors...
  36. ncbi The human complement factor H: functional roles, genetic variations and disease associations
    Santiago Rodriguez de Cordoba
    Centro de Investigaciones Biologicas, Departmento de Inmunologia, Ramiro de Maeztu 9, 28040 Madrid, Spain
    Mol Immunol 41:355-67. 2004
    b>Factor H is an essential regulatory protein that plays a critical role in the homeostasis of the complement system in plasma and in the protection of bystander host cells and tissues from damage by complement activation...
  37. doi Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy
    Koji Tanaka
    Department of Ophthalmology, Nihon University School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 52:7441-4. 2011
    To clarify whether complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes are associated with subtypes of polypoidal choroidal vasculopathy (PCV), such as polypoidal choroidal neovascularization (CNV) ..
  38. pmc Chlamydia pneumoniae infection, complement factor H variants and age-related macular degeneration
    D Shen
    10 Center Drive, 10 10N103, National Institutes of Health National Eye Institute, Bethesda, MD 20892 1857, USA
    Br J Ophthalmol 93:405-8. 2009
    Impaired inhibition of the alternative complement pathway by complement factor H (CFH) is linked to age-related macular degeneration (AMD) based on the strong association between CFH variant and AMD...
  39. pmc R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population
    Jennyfer Zerbib
    Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris 12, Creteil, France
    Mol Vis 16:1324-30. 2010
    ..Our purpose was to analyze the role of the R102G polymorphism of the complement component (C3) gene in a French population, in a case-control study...
  40. pmc Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries
    H P H Neumann
    Department of Nephrology, Albert Ludwigs University, Freiburg, Germany
    J Med Genet 40:676-81. 2003
    ..Deficiency of human complement factor H and familial occurrence led to identification of the factor H gene (FH1) as the susceptibility gene, but ..
  41. pmc Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome
    Markus J Lehtinen
    Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki, FIN 00290 Helsinki, Finland
    J Biol Chem 284:15650-8. 2009
    ..with mutations in complement proteins, most frequently in the main plasma alternative pathway regulator factor H (FH)...
  42. pmc CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD
    Hendrik P N Scholl
    Department of Ophthalmology, University of Bonn, Bonn, Germany
    PLoS ONE 4:e7418. 2009
    ..Variants in the genes encoding complement factor H (CFH), complement component 3 (C3) and age-related maculopathy susceptibility 2 (ARMS2) have repeatedly ..
  43. pmc The meningococcal vaccine candidate GNA1870 binds the complement regulatory protein factor H and enhances serum resistance
    Guillermo Madico
    Section of Infectious Diseases, Boston University School of Medicine, Boston, MA 02118, USA
    J Immunol 177:501-10. 2006
    Neisseria meningitidis binds factor H (fH), a key regulator of the alternative complement pathway...
  44. pmc Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent upon hypertension status: The ARIC study
    Kelly A Volcik
    Human Genetics Center, University of Texas Health Science Center, Houston, Texas, USA
    Am J Hypertens 21:533-8. 2008
    b>Complement factor H (CFH) is a plasma protein that is essential in the regulation of the alternative complement pathway and has been implicated as taking part in complement inhibition in atherogenesis...
  45. ncbi Haemophilus influenzae interacts with the human complement inhibitor factor H
    Teresia Hallström
    Medical Microbiology, Department of Laboratory Medicine, Lund University, Malmo University Hospital, Sweden
    J Immunol 181:537-45. 2008
    ..In this study, we identify two novel host-pathogen interactions, factor H (FH) and factor H-like protein 1 (FHL-1), the inhibitors of the alternative pathway that binds to Hib...
  46. doi Uncontrolled zinc- and copper-induced oligomerisation of the human complement regulator factor H and its possible implications for function and disease
    Ruodan Nan
    Institute of Structural and Molecular Biology, Division of Biosciences, and Department of Ocular Biology and Therapeutics, Darwin Building, University College London, Gower Street, London WC1E 6BT, UK
    J Mol Biol 384:1341-52. 2008
    Polymorphisms in factor H (FH), a major regulator of complement activation, and the accumulation of high zinc concentrations in the outer retina are both associated with age-related macular degeneration...
  47. pmc Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration
    Sanna P Seitsonen
    Department of Ophthalmology, University of Helsinki, Helsinki, Finland
    PLoS ONE 3:e3833. 2008
    ..Variants in the complement cascade genes and the LOC387715/HTRA1, have been widely reported to associate with age-related macular degeneration (AMD), the most common cause of visual impairment in industrialized countries...
  48. doi Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study
    Inger Christine Munch
    Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark
    Invest Ophthalmol Vis Sci 51:2317-21. 2010
    ..To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with age-related macular degeneration (AMD)...
  49. doi Interactions between Bordetella pertussis and the complement inhibitor factor H
    Hanne Amdahl
    Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki, Helsinki, Finland
    Mol Immunol 48:697-705. 2011
    ..pertussis and B. parapertussis bound the alternative pathway inhibitor factor H (FH) from normal human serum...
  50. doi Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy
    Yoichi Sakurada
    Department of Ophthalmology, University of Yamanashi, Yamanashi, Japan
    Ophthalmology 118:1402-7. 2011
    To investigate the role of complement factor H (CFH) I62V (rs800292) and age-related maculopathy susceptibility 2 (ARMS2) A69S (rs10490924) variants in the clinical characteristics of polypoidal choroidal vasculopathy (PCV).
  51. pmc CFH 184G as a genetic risk marker for anterior uveitis in Chinese females
    Ming Ming Yang
    Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
    Mol Vis 17:2655-64. 2011
    To investigate the association of three single nucleotide polymorphisms (SNPs) in the complement factor H (CFH), KIAA1109, and interleukin-27 (IL-27) genes in patients with anterior uveitis (AU).
  52. ncbi Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene
    Johannes P H van de Ven
    Department of Ophthalmology, Radboud University Medical Center, Philips van Leydenlaan, 6525 EX Nijmegen, The Netherlands
    Arch Ophthalmol 130:1038-47. 2012
    To identify novel complement factor H (CFH) gene mutations and to specify the clinical characteristics in patients with basal laminar drusen (BLD), a clinical subtype of age-related macular degeneration.
  53. pmc Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population
    Beatriz Buentello-Volante
    Department of Genetics and Research Unit, Institute of Ophthalmology Conde de Valenciana Mexico City, Mexico
    Mol Vis 18:2518-25. 2012
    To investigate the association of age-related macular degeneration (AMD)-high risk alleles of the complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), complement component 3 (C3), and age-related maculopathy ..
  54. pmc Pharmacogenetics for genes associated with age-related macular degeneration in the Comparison of AMD Treatments Trials (CATT)
    Stephanie A Hagstrom
    Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Ophthalmology 120:593-9. 2013
    ....
  55. pmc Complement factor H Val62Ile variant and risk of age-related macular degeneration: a meta-analysis
    Dongqing Yuan
    Department of Ophthalmology, First Affiliated Hospital of Nanjing Medical University, Nanjing, PR China
    Mol Vis 19:374-83. 2013
    To evaluate the precise association of complement factor H (CFH) Val62Ile polymorphism with age-related macular degeneration (AMD) susceptibility.
  56. pmc Alterations of choroidal blood flow regulation in young healthy subjects with complement factor H polymorphism
    Reinhard Told
    Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria
    PLoS ONE 8:e60424. 2013
    A common polymorphism in the complement factor H gene (rs1061170, Y402H) is associated with a high risk of age-related macular degeneration (AMD)...
  57. doi Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3
    Anne Kopp
    Junior Research Group Cellular Immunobiology, Leibniz Institute for Natural Product Research and Infection Biology, Hans Knöll Institute, 07745 Jena, Germany
    J Immunol 189:1858-67. 2012
    ..PTX3 activates complement, but it also binds the complement inhibitor factor H. In this study, we show that native factor H, factor H-like protein 1, and factor H-related protein 1 (CFHR1) ..
  58. pmc Binding of the human complement regulators CFHR1 and factor H by streptococcal collagen-like protein 1 (Scl1) via their conserved C termini allows control of the complement cascade at multiple levels
    Michael Reuter
    Department of Infection Biology, Hans Knoell Institute, 07745 Jena, Germany
    J Biol Chem 285:38473-85. 2010
    ..Here, we characterized the binding of the terminal complement complex inhibitor complement Factor H-related protein 1 (CFHR1) and of the C3 convertase regulator Factor H to the streptococcal collagen-like ..
  59. ncbi Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes
    Cheryl L Thompson
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA
    Hum Mol Genet 16:2135-48. 2007
    In this study, we investigated the associations of complement factor H (CFH) and hemicentin-1 (HMCN1) with age-related macular degeneration (AMD) and renal function...
  60. pmc The complete amino acid sequence of human complement factor H
    J Ripoche
    Department of Biochemistry, University of Oxford, U K
    Biochem J 249:593-602. 1988
    The complete amino acid sequence of the human complement system regulatory protein, factor H, has been derived from sequencing three overlapping cDNA clones...
  61. pmc Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome
    Iain Moore
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Blood 115:379-87. 2010
    ..By using multiplex ligation-dependent probe amplification we measured complement factor H-related (CFHR)1 and CFHR3 copy number...
  62. doi Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease
    Sonia Davila
    Infectious Diseases, Genome Institute of Singapore, Singapore
    Nat Genet 42:772-6. 2010
    ..A cluster of complement factor SNPs replicated independently in both cohorts, including SNPs within complement factor H (CFH) (rs1065489 (p.936D<E), P = 2.2 x 10(-11)) and in CFH-related protein 3 (CFHR3)(rs426736, P = 4...
  63. pmc Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3
    Valentina Cipriani
    Institute of Ophthalmology, University College London, London EC1V 9EL, UK
    Hum Mol Genet 21:4138-50. 2012
    ..7 × 10(-72)), CFH (complement factor H) (P =2.3 × 10(-47)), C2 (complement component 2)-CFB (complement factor B) (P =5...
  64. doi Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes
    Nicolas Leveziel
    Faculte de Medecine Henri Mondor, Creteil University Eye Clinic, Creteil, France
    Invest Ophthalmol Vis Sci 49:3090-4. 2008
    ..The purpose was to analyze the angiographic features of patients harboring homozygous genotypes for HTRA1 and CFH genes in a French exudative AMD population...
  65. doi Levels of urinary complement factor H in patients with IgA nephropathy are closely associated with disease activity
    J J Zhang
    Renal Division, Department of Medicine, Peking University First Hospital, Beijing, China
    Scand J Immunol 69:457-64. 2009
    b>Factor H plays a key inhibitory role in control of the activation of alternative pathway of complement system...
  66. doi Lack of association with rheumatoid arthritis of selected polymorphisms in 4 candidate genes: CFH, CD209, eotaxin-3, and MHC2TA
    Rebeca Dieguez-Gonzalez
    Laboratorio de Investigacion 10, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain
    J Rheumatol 36:1590-5. 2009
    ..associations with rheumatoid arthritis (RA) of single-nucleotide polymorphisms (SNP) in 4 candidate genes, complement factor H (CFH), CD209 or DC-SIGN, eotaxin-3, and the MHC class II Transactivator (MHC2TA) genes...
  67. doi Both domain 19 and domain 20 of factor H are involved in binding to complement C3b and C3d
    Arnab Bhattacharjee
    Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki, Haartmaninkatu 3, FIN 00014, Finland
    Mol Immunol 47:1686-91. 2010
    b>Factor H (FH) regulates the alternative pathway of complement in plasma and mediates discrimination of cellular surfaces to alternative pathway activators and non-activators...
  68. pmc Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype
    Reecha Sofat
    Centre for Clinical Pharmacology, Department of Medicine, University College London, London, UK
    Int J Epidemiol 41:250-62. 2012
    Variation in the complement factor H gene (CFH) is associated with risk of late age-related macular degeneration (AMD)...
  69. ncbi Human complement proteins C3b, C4b, factor H and properdin react with specific sites in gp120 and gp41, the envelope proteins of HIV-1
    H Stoiber
    Ludwig Boltzmann Institute for AIDS Research, University of Innsbruck, Austria
    Immunobiology 193:98-113. 1995
    ..e. activated C4 (C4b) and activated C3 (C3b) and the complement regulator proteins factor H and properdin. In this study we analyze these interactions in detail...
  70. pmc Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome
    M R Buddles
    Am J Hum Genet 66:1721-2. 2000
  71. ncbi Interaction between complement regulators and Streptococcus pyogenes: binding of C4b-binding protein and factor H/factor H-like protein 1 to M18 strains involves two different cell surface molecules
    David Perez-Caballero
    Departamento de Inmunologia, Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Cientificas, Madrid, Spain
    J Immunol 173:6899-904. 2004
    ..Among them is the binding to the bacterial cell surface of the complement regulatory proteins factor H, factor H-like protein 1 (FHL-1), and C4b-binding protein...
  72. pmc Binding of complement factor H to endothelial cells is mediated by the carboxy-terminal glycosaminoglycan binding site
    T Sakari Jokiranta
    Department of Bacteriology and Immunology, Haartman Institute and HUSLAB, FIN 00014, University of Helsinki, Helsinki, Finland
    Am J Pathol 167:1173-81. 2005
    b>Factor H (FH), the major fluid phase regulator of the alternative complement pathway, mediates protection of plasma-exposed host structures...
  73. pmc CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD
    Kristinn P Magnusson
    deCODE Genetics, Reykjavik, Iceland
    PLoS Med 3:e5. 2006
    ..Recently, it has been proposed that a common missense variant, Y402H, in the Complement Factor H (CFH) gene increases the risk for advanced AMD...
  74. ncbi Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His
    Michael A Grassi
    Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City 52242, USA
    Hum Mutat 27:921-5. 2006
    ..Previous studies have demonstrated that the c.1204T>C, p.Tyr402His allelic variant in the complement factor H (CFH) gene is associated with an approximately three-fold increased risk for AMD in Caucasians of ..
  75. ncbi Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients
    Ling Ing Lau
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    Invest Ophthalmol Vis Sci 47:3242-6. 2006
    ..A strong association between a coding variant, Y402H, in the complement factor H gene (CFH) and AMD has been recently identified in white patients...
  76. ncbi Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration
    Ammarin Thakkinstian
    Centre for Clinical Epidemiology and Biostatistics, School of Medical Practice and Population Health, University of Newcastle, NSW, Australia, and Clinical Epidemiology Unit, Ramathibodi Hospital, Bangkok, Thailand
    Hum Mol Genet 15:2784-90. 2006
    Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world and complement factor H (CFH) polymorphism has been found to associated with the AMD...
  77. ncbi CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses
    Yvette P Conley
    Department of Health Promotion and Development, School of Nursing, University of Pittsburgh, The Eye and Ear Institute Building, 203 Lothrop Street, Pittsburgh, PA 15261, USA
    Hum Mol Genet 15:3206-18. 2006
    ..This study provides additional support for the CFH and LOC387715 genes in ARM susceptibility via the evaluation of cohorts that had different ascertainment schemes regarding ARM status and through the meta-analyses...
  78. ncbi Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Victoria
    Invest Ophthalmol Vis Sci 47:4194-8. 2006
    Recent studies in U.S. populations have indicated that the Y402H variant of the complement factor H (CFH) gene contains a major risk susceptibility allele for age-related macular degeneration (AMD)...
  79. pmc The C-terminus of complement factor H is essential for host cell protection
    Mihaly Jozsi
    Leibniz Institute for Natural Product Research and Infection Biology, Hans Knöll Institute, Beutenbergstrasse 11a, D 07745 Jena, Germany
    Mol Immunol 44:2697-706. 2007
    ..b>Factor H is a central regulator in plasma which protects host tissue from complement mediated damage...
  80. ncbi Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration
    William K Scott
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Ophthalmology 114:1151-6. 2007
    To examine the potential gene-environment interaction between cigarette smoking and the complement factor H (CFH) T1277C polymorphism, 2 strong risk factors for age-related macular degeneration (AMD).
  81. ncbi The host immune regulator factor H interacts via two contact sites with the PspC protein of Streptococcus pneumoniae and mediates adhesion to host epithelial cells
    Sven Hammerschmidt
    University of Wuerzburg, Research Center for Infectious Diseases, Wuerzburg, Germany
    J Immunol 178:5848-58. 2007
    ..PspC binds the host immune and complement regulator factor H, which is composed of 20 short consensus repeats (SCR). This interaction contributes to pneumococcal virulence...
  82. ncbi Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab
    Milam A Brantley
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Ophthalmology 114:2168-73. 2007
    To investigate whether there is an association between complement factor H (CFH) or LOC387715 genotypes with response to treatment with intravitreal bevacizumab for exudative age-related macular degeneration (AMD).
  83. doi Gene-environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne, VIC 3002, Australia
    Hum Mol Genet 17:1299-305. 2008
    A number of risk factors including the complement factor H (CFH) gene, smoking and Chlamydia pneumoniae have been associated with age-related macular degeneration (AMD)...
  84. ncbi Complement factor H Y402H gene polymorphism in coronary artery disease and atherosclerosis
    S V Goverdhan
    Atherosclerosis 188:213-4. 2006
  85. ncbi No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population
    Junko Uka
    Department of Ophthalmology and Visual Science, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan
    Retina 26:985-7. 2006
    The aim of this study was to determine whether genetic polymorphism of complement factor H (CFH) is associated with age-related macular degeneration (AMD) in the Japanese population.
  86. ncbi Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration
    Beate J Wegscheider
    Department of Ophthalmology, Medical University Graz, Graz, Austria
    Ophthalmology 114:738-42. 2007
    ..The complement system has been implicated in the pathogenesis of drusen. Recently, a complement factor H (CFH) polymorphism, which is characterized by a tyrosine (Y)-to-histidine (H) exchange at position 402 of ..
  87. ncbi Site-specific N-glycan characterization of human complement factor H
    François Fenaille
    Laboratoire Francais du Fractionnement et des Biotechnologies, Développement Biopharmaceutique, 3 avenue des Tropiques, BP305 Les Ulis, 91958 Courtaboeuf cedex, France
    Glycobiology 17:932-44. 2007
    Human complement factor H (CFH) is a plasma glycoprotein involved in the regulation of the alternative pathway of the complement system...
  88. ncbi Complement Factor H polymorphism Y402H associates with inflammation, visual acuity, and cardiovascular mortality in the elderly population at large
    Simon P Mooijaart
    Department of Gerontology and Geriatrics, C 2 R Leiden University Medical Center, P O Box 9600, 2300 RC, Leiden, The Netherlands
    Exp Gerontol 42:1116-22. 2007
    The haplotype tagging Y402H polymorphism in the Complement Factor H gene (CFH) has consistently been associated with age-related macular degeneration, whereas conflicting results have been reported on its relationship with cardiovascular ..
  89. ncbi Identification of residues within the 727-767 segment of human complement component C3 important for its interaction with factor H and with complement receptor 1 (CR1, CD35)
    A E Oran
    Department of Immunology, University of Toronto, Toronto, Ontario M5S 1A8, Canada
    J Biol Chem 274:5120-30. 1999
    ..the 727-767 segment at the NH2 terminus of C3b alpha'-chain as contributing to the interactions with factor B, factor H, and CR1...
  90. ncbi A radiation hybrid map of complement factor H and factor H-related genes
    M A Diaz-Guillen
    Departamento de Inmunologia, Centro de Investigaciones Biologicas CSIC, Madrid, Spain
    Immunogenetics 49:549-52. 1999
  91. ncbi Complement C3b/C3d and cell surface polyanions are recognized by overlapping binding sites on the most carboxyl-terminal domain of complement factor H
    Jens Hellwage
    Department of Bacteriology and Immunology, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    J Immunol 169:6935-44. 2002
    b>Factor H (FH) is a potent suppressor of the alternative pathway of C in plasma and when bound to sialic acid- or glycosaminoglycan-rich surfaces. Of the three interaction sites on FH for C3b, one interacts with the C3d part of C3b...
  92. ncbi Complement factor H polymorphism and age-related macular degeneration
    Albert O Edwards
    Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center UTSWMC, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Science 308:421-4. 2005
    ..locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2...
  93. pmc A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
    Gregory S Hageman
    Department of Ophthalmology and Visual Sciences, Cell Biology and Functional Genomics Laboratory, University of Iowa, Iowa City, IA 52240, USA
    Proc Natl Acad Sci U S A 102:7227-32. 2005
    ..Here, we show that factor H (HF1), the major inhibitor of the alternative complement pathway, accumulates within drusen and is synthesized by ..
  94. pmc Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration
    Sepideh Zareparsi
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
    Am J Hum Genet 77:149-53. 2005
    ..of cases and controls from a single center, we show that a T-->C substitution in exon 9 (Y402H) of the complement factor H gene is strongly associated with susceptibility to age-related macular degeneration, the most common cause ..
  95. ncbi Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers
    Tiina Sepp
    Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom
    Invest Ophthalmol Vis Sci 47:536-40. 2006
    The complement factor H (CFH) gene polymorphism Y402H (1277T-->C) has been associated with susceptibility to age-related macular degeneration (AMD). The purpose of this study was to confirm this association in a U.K...
  96. ncbi De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome
    Stefan Heinen
    Department for Infection Biology, Hans Knoell Institute for Natural Products Research, Jena, Germany
    Hum Mutat 27:292-3. 2006
    ..The highest degree of identity is between the genes for factor H (CFH) and five factor H-related proteins--CFHL1, CFHL2, CFHL3, CFHL4, and CFHL5...
  97. ncbi Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)
    C Licht
    Children s Hospital of the University of Cologne, Pediatric Nephrology, Cologne, Germany
    Kidney Int 70:42-50. 2006
    We report a novel pathomechanism for membranoproliferative glomerulonephritis type II (MPGN II) caused by a mutant Factor H protein expressed in the plasma...
  98. ncbi Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration
    Dominiek D G Despriet
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    JAMA 296:301-9. 2006
    ..Recent case-control studies demonstrated an association between the complement factor H (CFH) gene, a regulator of complement, and AMD.
  99. pmc Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid
    P T Johnson
    Center for the Study of Macular Degeneration, Neuroscience Research Institute, University of California, Santa Barbara, CA 93106 5060, USA
    Proc Natl Acad Sci U S A 103:17456-61. 2006
    Polymorphisms in the complement factor H gene (CFH) are associated with a significantly increased risk for, or protection against, the development of age-related macular degeneration (AMD)...
  100. ncbi Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease
    Nicole Tedeschi-Blok
    Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA
    Ophthalmology 114:99-103. 2007
    Recently, a strong association has been observed for the complement factor H (CFH) Tyr402His polymorphism with early and advanced age-related macular degeneration (AMD) in independent non-Hispanic White, clinic-based, case-control ..

Research Grants72

  1. Baerbel Rohrer; Fiscal Year: 2016
    ..One of the most detrimental mutations occurs in factor H (fH) an essential inhibi- tor in the complement cascade (fH risk haplotype)...
  2. Building a Better AMD Mouse
    Caroline J Zeiss; Fiscal Year: 2010
    ..most evidence exists for dysregulated systemic complement activation, predominantly due to polymorphisms in complement factor H, or CFH and a cardiovascular risk profile...
  3. Rafael Ufret-Vincenty; Fiscal Year: 2016
    ..Genetic studies have consistently shown that a variant in complement factor H (Cfh), an important regulator of complement activation, is a strong risk factor for AMD...
  4. Wenchao Song; Fiscal Year: 2016
    ..evidence that individuals carrying single nucleotide polymorphism (SNP) in complement genes such as complement factor H (fH), factor B (fB), component 2 (C2) and component 3 (C3) are at increased risk of developing AMD...
  5. Effect of Zinc in Attaching and Effacing E. coli Infection
    John K Crane; Fiscal Year: 2012
    ..For these studies we will use a new model of hemorrhagic colitis (HC) and hemolytic uremic syndrome (HUS) which develops in Dutch Belted rabbits challenged with REPEC strains expressing Stx1 or Stx2...
  6. E. coli O157: H7 Vaccine Development
    Alfredo G Torres; Fiscal Year: 2012
    ..provided by applicant): Our long-term goal is to develop human vaccines for the prevention of diarrhea and/or HUS caused by E. coli O157:H7 and diarrhea by other pathogenic E. coli...
  7. Catherine Bowes Rickman; Fiscal Year: 2014
    ..is supported by studies identifying complement proteins in drusen and studies implicating variations in the complement factor H (CFH) gene as the strongest genetic factor associated with AMD risk...
  8. Functional analysis of AMD-associated HTRA1 promoter polymorphism
    Noriko Esumi; Fiscal Year: 2010
    ..Although complement factor H (CFH) appears to be the major susceptibility gene on 1q32, the critical region on 10q26 has been ..
  9. Genetic Epidemiology of Age-Related Macular Degeneration
    Debra A Schaumberg; Fiscal Year: 2011
    ..fraction for AMD in relation to common variants within a group of strong candidate genes including complement factor H, HTRA1/LOC387715, and others (candidates identified based on position, function, expression, etc...
  10. Epigenetic regulation of SOD2 and CFH gene expression in the aging RPE
    Zeljka Smit-McBride; Fiscal Year: 2013
    ..the age-related epigenetic regulation of wild type alleles of manganese superoxide dismutase (SOD2) and complement factor H (CFH), two genes whose variant alleles are associated with the risk of AMD...
  11. Admixture Mapping of Glaucoma Genes in African Americans
    Michael A Hauser; Fiscal Year: 2012
    ..has recently met with dramatic success in the analysis of complex diseases, including the identification of Complement Factor H as the strongest genetic risk factor for age- related macular degeneration...
  12. Vanessa Sperandio; Fiscal Year: 2016
    ..coli (EHEC) causes outbreaks of bloody diarrhea and hemolytic uremic syndrome (HUS) worldwide...
  13. John S Werner; Fiscal Year: 2015
    ..These functional data will be correlated with sequenced opsin genes and complement factor H alleles, and with ultra-high resolution images to study photoreceptor numbers and outer retinal morphology, ..
  14. Role of the ribosomal stalk in the activity of Shiga toxins
    Nilgun E Tumer; Fiscal Year: 2013
    ..that can cause severe morbidity and mortality, including hemorrhagic colitis (HC) and hemolytic uremic syndrome (HUS). They are classified as category B bioterrorism select agents...
  15. Wenchao Song; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): Factor H (fH) is a plasma inhibitor of the alternative pathway (AP) complement. It is composed of 20 short consensus repeat (SCR) domains...
  16. Identifying rare haplotype-environment interactions using Logistic Bayesian Lasso
    Shili Lin; Fiscal Year: 2013
    ..LBL, we were able to implicate a specific rare haplotype for Age-related Macular Degeneration (AMD) in the Complement Factor H (CFH) gene for the first time...
  17. Molecular mechanisms of Shiga toxin action in the mammal central nervous system
    Fumiko Obata; Fiscal Year: 2011
    ..STEC) infection causes diarrhea, bloody diarrhea and in severe cases, patients develop Hemolytic Uremic Syndrome (HUS) and central nervous system (CNS) impairment...
  18. Genetic Variations in Age-related Macular Degeneration
    John R Heckenlively; Fiscal Year: 2010
    ..We and others have recently identified genetic variants in several genes [such as complement factor H (CFH), toll-like receptor 4 (TLR4) and apolipoprotein E (APOE)] that have been associated with ..
  19. The Role of Complement in the Pathogenesis of Preeclampsia
    MICHAEL PAUL TRIEBWASSER; Fiscal Year: 2013
    ..These findings led to the sequencing of membrane cofactor protein (MCP), complement factor I (FI), and complement factor H (FH) in a group of preeclamptic patients from the PROMISSE study (Predictors of pregnancy Outcome: ..
  20. Role of the complement system in renal disease
    Richard J Quigg; Fiscal Year: 2011
    ..b>Complement factor H, decay accelerating factor, and complement receptor 1-related protein y (Crry) are responsible for limiting ..
  21. NOVEL E. COLI 0157:H7 INTESTINAL COLONIZATION FACTORS
    JAMES KAPER; Fiscal Year: 2009
    ..Escherichia coli O157:H7 (EHEC) is an important cause of hemorrhagic colitis and the hemolytic uremic syndrome (HUS)...
  22. E. coli O157:H7 genes induced during human infection
    INDIRA KUDVA; Fiscal Year: 2005
    ..technique involves the sequential adsorption of convalescent sera from a patient who had hemolytic uremic syndrome (HUS) against whole cells, cell-lysates, and heat-denatured cell-lysates of the cognate pathogen grown under standard ..
  23. PATHOPHYSIOLOGY OF CHILDHOOD HEMOLYTIC UREMIC SYNDROME
    Phillip Tarr; Fiscal Year: 2005
    ..coli O157:H7 infection, and (b) one or more factor H gene polymorphisms is associated with this outcome (Aim 3)...
  24. J Evan Sadler; Fiscal Year: 2016
    ..characterize new inhibitors of tissue factor and evaluate their efficacy in animal models of thrombosis, sepsis, HUS, and cancer progression...
  25. New therapeutics for Shiga toxin-E. coli disease.
    Fumiko Obata; Fiscal Year: 2011
    ..LPS) are responsible for much of the disease burden and kidney damage known as the hemolytic uremic syndrome (HUS). Currently, no specific therapies are available for treatment of this disease...
  26. The role of prophage life cycle in Stx production and disease due to EHEC
    Kathryn A Eaton; Fiscal Year: 2013
    ..are disproportionately affected by severe manifestations of disease, and may develop hemolytic-uremic syndrome (HUS), a rapidly progressive and sometimes fatal form of renal failure...
  27. Development of Aptamer-Based Therapy Against HUS
    SAUL R TZIPORI; Fiscal Year: 2010
    ..Our proposal targets the development of therapy against hemolytic uremic syndrome (HUS) caused by Shiga toxin (Stx)-producing E. coli (STEC)...
  28. Enhancing Host Intestinal Defenses against Enteropathogenic and Shiga toxigenic E
    John K Crane; Fiscal Year: 2013
    ..is noted for its ability to cause food-borne outbreaks of bloody diarrhea complicated by hemolytic-uremic syndrome (HUS)...
  29. ALISON DAVIS O'BRIEN; Fiscal Year: 2016
    ..S. with an estimated incidence of 63,153 cases per annum. Moreover, the hemolytic uremic syndrome (HUS), a sequela of STEC infection, is the most frequent basis for acute kidney failure in U.S. children...
  30. Disruption of NF-kB signaling by diarrheagenic Escherichia coli
    PHILIP ROSS HARDWIDGE; Fiscal Year: 2010
    ..EHEC also causes a fatal kidney disease (hemolytic uremic syndrome;HUS) for which there is no effective treatment or prophylaxis. EHEC and other enteric pathogens (e.g...
  31. Oligonucleotide-based therapy for HUS
    Abhineet Sheoran; Fiscal Year: 2009
    This proposal targets the development of therapy against hemolytic uremic syndrome (HUS) caused by Shiga toxin (Stx)-producing E. coli (STEC)...
  32. ENDOTHELIAL GB3 SPECIES INVOLVED IN HUS PATHOGENESIS
    DAVID NEWBURG; Fiscal Year: 2003
    ..injury are life-threatening complications of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura (HUS/TTP). Survivors of HUS/TTP sometimes suffer irreversible damage...
  33. MECHANISMS OF ENDOTHELIAL CELL INJURY IN TTP/HUS
    Jerome Gottschall; Fiscal Year: 1999
    ..When associated with acute renal failure in adults, the term "hemolytic uremic syndrome" (HUS) is often used...
  34. Intervention strategies of hemorrhagic colitis and HUS
    Edgar Boedeker; Fiscal Year: 2004
    ..meat, or other contaminated foods, cause hemorrhagic colitis, and may induce fatal hemolytic uremic syndrome (HUS)...
  35. Engineered R-type pyocins as bactericidal agents against E.coli O157:H7
    DEAN M SCHOLL; Fiscal Year: 2011
    ..food- and waterborne pathogens that cause illnesses ranging from non-bloody diarrhea to hemolytic uremic syndrome (HUS). E...
  36. PATHOGENESIS & INTERVENTION STRATEGIES IN HEMORRHAGIC CO
    Peter Bloom; Fiscal Year: 1999
    ..Because of his interest in hemolytic uremic syndrome (HUS) stemming from his documentation of an outbreak of Shigella dysenteriae in Souther Africa, Dr...
  37. Shiga toxin uptake mechanisms and intracellular action
    Olga Kovbasnjuk; Fiscal Year: 2010
    ..bloody diarrhea in the USA and life-threatening systemic complications, including the hemolytic uremic syndrome (HUS)...
  38. Shinichiro Kurosawa; Fiscal Year: 2016
    ..hemorrhagic colitis usually resolves, but some patients progress to potentially lethal hemolytic uremic syndrome (HUS), as well as neurologic, pulmonary and cardiac complications...
  39. GLYCOLIPIDS AND HEMOLYTIC UREMIC SYNDROME
    David Haslam; Fiscal Year: 2002
    DESCRIPTION (Adapted from applicant's abstract): Hemolytic uremic syndrome (HUS) is characterized by verotoxin-mediated damage to endothelial cells that results in hemolytic anemia, throbocytopenia, and multisystemic complications ..
  40. 0157:H7 INTIMIN AND STX--PATHOGENESIS IN A MOUSE MODEL
    David Schauer; Fiscal Year: 2003
    ..The most serious complication of EHEC infection is hemolytic uremic syndrome (HUS), which occurs primarily in children...
  41. INFLAMMATION AND APOPTOSIS IN EXPERIMENTAL HEMOLYTIC UREMIC SYNDROME
    Bruce Magun; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): Hemolytic-uremic syndrome (HUS) is the most common cause of renal failure in children. HUS is a severe inflammatory disease, caused by Shiga toxin-producing E...
  42. Proinflammatory signaling in the kidney by Shiga toxin
    KRISTIN SAUTER; Fiscal Year: 2009
    Hemolytic-uremic syndrome (HUS), a common cause of acute renal failure in children, is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. HUS is caused by Shiga-toxin producing E...
  43. StcE, an E.coli O157:H7 Protease Specific for C1-Inh
    RODNEY WELCH; Fiscal Year: 2007
    ..of the infected individuals, mostly young children progress to a severe renal disease, hemolytic uremic syndrome (HUS)...
  44. EHEC interactions with the normal intestinal flora
    Vanessa Sperandio; Fiscal Year: 2004
    ..coli (EHEC) O157:H7 is responsible for major outbreaks of bloody diarrhea and hemolytic uremic syndrome (HUS) throughout the world...
  45. NEW THERAPEUTICS FOR PATHOGENIC E-COLI DISEASES
    Tom Obrig; Fiscal Year: 2007
    ..disease" responsible for outbreaks of food-borne illness and is the leading cause of hemolytic uremic syndrome (HUS), acute renal failure in young children...
  46. MECHANISMS OF ENDOTHELIAL CELL INJURY IN HUS
    Sharon Andreoli; Fiscal Year: 1999
    DESCRIPTION The hemolytic uremic syndrome (HUS) causes acute renal failure in children and leads to substantial morbidity, and mortality...
  47. Targeting Pneumococcal Virulence Factors in Otitis Media
    Honggao Yan; Fiscal Year: 2012
    ..The molecular bases for their functions are the ability of CbpA to bind human complement factor H (FH) and the ectodomain of pIgR and the ability of PspA to bind apo- and holo-lactoferrin (LF) and to ..
  48. Walter J Lukiw; Fiscal Year: 2016
    ..of a specific NF-?B-sensitive miRNA-146a down-regulates the abundance of at least three major mRNA targets, complement factor H (CFH), interleukin-1 receptor associated kinase (IRAK) and tetraspanin 12 (TSPAN12), that encode key ..
  49. Kathleen M Caron; Fiscal Year: 2016
    ..In this regard, AM peptide binds to and potentiates the activity of Complement Factor H, a negative inhibitor of the alternative complement pathway that is important for normal implantation...
  50. PETER TRIP BEERNINK; Fiscal Year: 2015
    ..Meningococci use fHbp to bind complement factor H (fH) to evade host immunity;binding is specific for human fH...
  51. EHEC-induced actin rearrangement and Stx2 translocation across epithelium
    John M Leong; Fiscal Year: 2012
    ..toxin Stx, which can be absorbed from the intestine and cause life-threatening hemolytic uremic syndrome (HUS), featuring anemia, thromobcytopenia and renal failure...
  52. Characterization of a novel AB5 cytotoxin
    Adrienne W Paton; Fiscal Year: 2011
    ..coli (a category B Priority Pathogen) that was responsible for an outbreak of hemolytic uremic syndrome (HUS)...
  53. Pathogenesis of HIV-HUS in children
    Patricio E Ray; Fiscal Year: 2012
    HIV-infected children can develop a severe form of Hemolytic Uremic Syndrome (HUS) characterized by rapid progression of the renal disease and/or death associated with bleeding complications...
  54. Pathogenicity of Shiga Toxin-Producing E. coli
    ALISON O BRIEN; Fiscal Year: 2007
    ..S. with an estimated incidence of 73,480 cases per annum. Moreover, the hemolytic uremic syndrome (HUS), a sequela of O 157:H7 infection, is the most frequent basis for acute kidney failure in U.S. children...
  55. PROXIMAL TUBULE ANGIOTENSINS--HEMOLYTIC UREMIC SYNDROME
    Julie Ingelfinger; Fiscal Year: 2004
    DESCRIPTION (adapted from the application) Most studies of hemolytic uremic syndrome (HUS), a leading cause of acute renal failure in children, have focused on mechanisms of thrombotic microangiopathy and endothelial injury...
  56. THROMBIN AND VWF IN SHIGA-TOXIN-ASSOCIATED HUS
    Thomas Raife; Fiscal Year: 2001
    DESCRIPTION (adapted from the application) Shigatoxin-associated hemolytic uremic syndrome (HUS) is a thrombotic microangiopathic disorder in which microvascular thrombosis is a leading cause of acute and chronic organ injury...
  57. Induction of Tissue Factor by Patient Sera in HUS
    Eric Grabowski; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): [unreadable] Diarrhea-positive Hemolytic Uremic Syndrome (D+ HUS) is a serious disease in children that causes hemolytic anemia, thrombocytopenia, and acute renal failure...
  58. Functional Tissue Factor on Activated Endothelium
    Eric Grabowski; Fiscal Year: 2004
    ..The investigators will focus on Shiga toxin injury to the vessel wall in the hemolytic uremic syndrome (HUS) as a paradigm for general endothelial injury...
  59. SHIGA LIKE TOXIN AND RENAL CELL DYSFUNCTION
    Donald Kohan; Fiscal Year: 2001
    Post-diarrheal hemolytic uremic syndrome (HUS) is the leading cause of acute renal failure in children. The HUS is characterized by acute renal injury, microangiopathic hemolytic anemia, and thrombocytopenia...
  60. SHIGA-LIKE TOXIN--ENDOTHELIAL CELL INTERACTIONS
    Tom Obrig; Fiscal Year: 1999
    Hemolytic uremic syndrome (HUS) is a vascular disease with primary damage of the kidney in which glomerular microcapillaries become occluded with fibrin and platelets...
  61. Novel Type IV Pili of Enterohemorrhagic E. coli O157:H7
    Jorge Giron; Fiscal Year: 2004
    ..as an important emerging pathogen responsible for producing hemorrhagic colitis and the hemolytic uremic syndrome (HUS) in humans...
  62. Novel YcbQ Pili of Enterohemorrhagic E. coli O157:H7
    Jorge Giron; Fiscal Year: 2007
    ..as an important emerging pathogen responsible for producing hemorrhagic colitis and the hemolytic uremic syndrome (HUS) in humans...
  63. MINORITY PREDOCTORAL FELLOWSHIP PROGRAM
    MAMIE COATS; Fiscal Year: 2005
    Hemolytic uremic syndrome (HUS) is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia...
  64. BONE SIALOPROTEIN AND BREAST CANCER METASTASIS
    Neal Fedarko; Fiscal Year: 2002
    ..We have recently found that circulating solution phase BSP and OPN are complexed with complement factor H and that this interaction blocks their subsequent binding to integrins...
  65. Baerbel Rohrer; Fiscal Year: 2014
    ..Recent genetic evidence has implicated variations in the complement inhibitory protein factor H (CFH), as well as in the genes for complement factor B (CFB), C2 and C3, as potential risk factors for the ..
  66. Development of Complement Modulating Therapeutics for AMD
    Gregory S Hageman; Fiscal Year: 2010
    Development of Complement Modulating Therapeutics for AMD Factor H is the principal soluble inhibitor of the complement cascade alternative pathway, an important component of the innate immune system...
  67. Complement in AMD: Mechanisms and Therapeutic Intervention
    John D Lambris; Fiscal Year: 2013
    ..of AMD, and several genotyping studies have identified polymorphisms in the genes for C3, factor B, and factor H as important risk factors for development of this disease...
  68. Retinal degeneration caused by alterations in protein tyrosine O-sulfation
    Muayyad R Al-Ubaidi; Fiscal Year: 2013
    ..This is of significance to over 10 million US Citizens of all ages and races that suffer from RP and AMD. ..
  69. DENNIS EMIL HOURCADE; Fiscal Year: 2016
    ..g. autoimmunity), and to convertase regulator dysfunction (e.g. atypical HUS, age-related macular degeneration)...
  70. James T Handa; Fiscal Year: 2015
    ..membrane regulator CD46 is reduced by oxidized lipids, and genetic abnormalities to the fluid-phase regulator factor H (CFH) are linked with AMD risk...
  71. SIBLING STUDY OF AGE-RELATED MACULAR DEGENERATION
    Margaret M DeAngelis; Fiscal Year: 2010
    ..abstract_text> ..
  72. Comparative Proteomics to Study Age-Related Maculopathy
    Yetrib Hathout; Fiscal Year: 2009
    ..We will implement a proteomic approach to assess differential protein secretion in RPE cell cultures derived from AMD and age matched healthy donors. ..