complement factor h

Summary

Summary: An important soluble regulator of the alternative pathway of complement activation (COMPLEMENT ACTIVATION PATHWAY, ALTERNATIVE). It is a 139-kDa glycoprotein expressed by the liver and secreted into the blood. It binds to COMPLEMENT C3B and makes iC3b (inactivated complement 3b) susceptible to cleavage by COMPLEMENT FACTOR I. Complement factor H also inhibits the association of C3b with COMPLEMENT FACTOR B to form the C3bB proenzyme, and promotes the dissociation of Bb from the C3bBb complex (COMPLEMENT C3 CONVERTASE, ALTERNATIVE PATHWAY).

Top Publications

  1. 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
  2. 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
  3. ncbi Complement factor H binds malondialdehyde epitopes and protects from oxidative stress
    David Weismann
    Center for Molecular Medicine of the Austrian Academy of Sciences, 1090 Vienna, Austria
    Nature 478:76-81. 2011
  4. 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
  5. 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
  6. pmc Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk
    Meike Heurich
    Department of Infection, Immunity and Biochemistry, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom
    Proc Natl Acad Sci U S A 108:8761-6. 2011
  7. pmc Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
    Elena Goicoechea de Jorge
    Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Cientificas, Ramiro de Maeztu 9, 28040 Madrid, Spain
    Proc Natl Acad Sci U S A 104:240-5. 2007
  8. ncbi A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
    Anne E Hughes
    Department of Medical Genetics, Queen s University, Belfast, Belfast BT12 6BL, UK
    Nat Genet 38:1173-7. 2006
  9. pmc A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
    Soumya Raychaudhuri
    Division of Genetics, Brigham and Women s Hospital, Boston, Massachusetts, USA
    Nat Genet 43:1232-6. 2011
  10. 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

Detail Information

Publications270 found, 100 shown here

  1. 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))...
  2. 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 ..
  3. ncbi Complement factor H binds malondialdehyde epitopes and protects from oxidative stress
    David Weismann
    Center for Molecular Medicine of the Austrian Academy of Sciences, 1090 Vienna, Austria
    Nature 478:76-81. 2011
    ..Here we identify complement factor H (CFH) as a major MDA-binding protein that can block both the uptake of MDA-modified proteins by macrophages ..
  4. 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...
  5. 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
    ..We propose that genetic variation in a regulator of the alternative complement pathway, when combined with a triggering event, such as infection, underlie a major proportion of AMD in the human population...
  6. pmc Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk
    Meike Heurich
    Department of Infection, Immunity and Biochemistry, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom
    Proc Natl Acad Sci U S A 108:8761-6. 2011
    ..0001). These data introduce the concept of a functional complotype (combination of polymorphisms) defining complement activity in an individual, thereby influencing susceptibility to AP-driven disease...
  7. pmc Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
    Elena Goicoechea de Jorge
    Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Cientificas, Ramiro de Maeztu 9, 28040 Madrid, Spain
    Proc Natl Acad Sci U S A 104:240-5. 2007
    ....
  8. ncbi A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
    Anne E Hughes
    Department of Medical Genetics, Queen s University, Belfast, Belfast BT12 6BL, UK
    Nat Genet 38:1173-7. 2006
    ..It is a complex disease in which genetic and environmental factors contribute to susceptibility. Complement factor H (CFH) has recently been identified as a major AMD susceptibility gene, and the Y402H polymorphism has been ..
  9. pmc A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
    Soumya Raychaudhuri
    Division of Genetics, Brigham and Women s Hospital, Boston, Massachusetts, USA
    Nat Genet 43:1232-6. 2011
    Two common variants in the gene encoding complement factor H (CFH), the Y402H substitution (rs1061170, c.1204C>T)(1-4) and the intronic rs1410996 SNP(5,6), explain 17% of age-related macular degeneration (AMD) liability...
  10. 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
    ..These data provide further support for inclusion of this molecule in a meningococcal vaccine. To reflect the critical function of this molecule, we suggest calling it fH-binding protein...
  11. pmc Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes
    Robyn Reynolds
    Ophthalmic Epidemiology and Genetics Service, Department of Ophthalmology, Tufts University School of Medicine, Tufts Medical Center, Boston, Massachusetts 02111, USA
    Invest Ophthalmol Vis Sci 50:5818-27. 2009
    ..This study was conducted to determine whether alterations in circulating levels of these markers of complement activation and regulation are also independently associated with advanced AMD and whether they are related to AMD genotypes...
  12. pmc Regulation of complement factor H (CFH) by multiple miRNAs in Alzheimer's disease (AD) brain
    Walter J Lukiw
    LSU Neuroscience Center, Louisiana State University Health Sciences Center, 2020 Gravier Street, New Orleans, LA 7011 2272, USA
    Mol Neurobiol 46:11-9. 2012
    ....
  13. 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 ..
  14. pmc Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications
    Gregory S Hageman
    Department of Ophthalmology and Visual Sciences, Cell Biology and Functional Genomics Laboratory, The University of Iowa, 11190E PFP, 200 Hawkins Drive, Iowa City, Iowa 52240, USA
    Ann Med 38:592-604. 2006
    Variants in the complement factor H gene (CFH) are associated with age-related macular degeneration (AMD). CFH and five CFH-related genes (CFHR1-5) lie within the regulators of complement activation (RCA) locus on chromosome 1q32...
  15. ncbi 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...
  16. ncbi An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)
    Lars G Fritsche
    Institute of Human Genetics, University of Regensburg, Franz Josef Strauss Allee 11, Regensburg, Germany
    Hum Mol Genet 19:4694-704. 2010
    A frequent deletion of complement factor H (CFH)-related genes CFHR3 and CFHR1 (ΔCFHR3/CFHR1) is considered to have a protective effect against age-related macular degeneration (AMD), although the underlying mechanism remains elusive...
  17. pmc Tissue-specific host recognition by complement factor H is mediated by differential activities of its glycosaminoglycan-binding regions
    Simon J Clark
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, United Kingdom
    J Immunol 190:2049-57. 2013
    b>Complement factor H (CFH) regulates complement activation in host tissues through its recognition of polyanions, which mediate CFH binding to host cell surfaces and extracellular matrix, promoting the deactivation of deposited C3b...
  18. pmc Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction
    Peter J Coffey
    Division of Cellular Therapy, Institute of Ophthalmology, University College London, London EC1V 9EL, United Kingdom
    Proc Natl Acad Sci U S A 104:16651-6. 2007
    ..is the most common form of legal blindness in westernized societies, and polymorphisms in the gene encoding complement factor H (CFH) are associated with susceptibility to age-related macular degeneration in more than half of affected ..
  19. ncbi The role of complement Factor H in age-related macular degeneration: a review
    Larry A Donoso
    The Philadelphia Retina Endowment Fund, the Eye Research Institute, Philadelphia, PA, USA
    Surv Ophthalmol 55:227-46. 2010
    ..Identification of the initial event or inciting antigen has yet to be determined and will significantly advance the understanding of the pathogenesis of AMD...
  20. pmc Frequency of factor H-binding protein modular groups and susceptibility to cross-reactive bactericidal activity in invasive meningococcal isolates
    Rolando Pajon
    Center for Immunobiology and Vaccine Development, Children s Hospital Oakland Research Institute, 5700 Martin Luther King Jr Way, Oakland, CA 94609, USA
    Vaccine 28:2122-9. 2010
    ..The results confirmed the modular architecture of fHbp and underscored its importance for the design of broadly protective group B vaccines in different regions...
  21. ncbi Structure and flexibility of the multiple domain proteins that regulate complement activation
    M D Kirkitadze
    Center for Neurological Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Immunol Rev 180:146-61. 2001
    ..The results could have implications for folding, evolution, flexibility and structure-function relationships of other molecules in the large, diverse and little understood category of multiple domain proteins...
  22. ncbi 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 ..
  23. ncbi Phenotype and genotype characteristics of age-related macular degeneration in a Japanese population
    Keisuke Mori
    Department of Ophthalmology, Saitama Medical University, Iruma, Saitama, Japan
    Ophthalmology 117:928-38. 2010
    ..To describe phenotype and genotype characteristics of age-related macular degeneration (AMD) in Japanese patients...
  24. pmc The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity
    Agustín Tortajada
    Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Cientificas, Instituto Reina Sofía de Investigaciones Nefrológicas, Madrid, Spain
    Hum Mol Genet 18:3452-61. 2009
    ....
  25. ncbi Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome
    Marie Agnès Dragon-Durey
    Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, 20 rue Leblanc, 75015 Paris, France
    J Am Soc Nephrol 16:555-63. 2005
    ..This new mechanism of functional FH deficiency may lead to the design of new approaches of diagnosis and treatment with a particular interest in plasma exchanges or immunosuppressive therapies...
  26. pmc Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome
    Peter F Zipfel
    Leibniz Institute for Natural Product Research and Infection Biology, Hans Knoell Institute, Jena, Germany
    PLoS Genet 3:e41. 2007
    ..Disease-associated mutations have been described in the genes encoding the complement regulators complement factor H, membrane cofactor protein, factor B, and factor I...
  27. ncbi The complement regulator factor H binds to the surface protein OspE of Borrelia burgdorferi
    J Hellwage
    Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki, Haartmaninkatu 3, FIN-00014 Helsinki, Finland
    J Biol Chem 276:8427-35. 2001
    ..Specific binding of factor H to B. burgdorferi sensu stricto OspE may help the pathogen to evade complement attack and phagocytosis...
  28. pmc Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy
    Luiz H Lima
    The Vitreous, Retina, Macula Consultants of New York and the LuEsther T Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, USA
    Ophthalmology 117:1567-70. 2010
    ..To investigate the frequency of variants in 3 major age-related macular degeneration (AMD)-associated loci in patients of European-American descent with polypoidal choroidal vasculopathy (PCV)...
  29. 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)...
  30. pmc Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement
    Sanjeev Sethi
    Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    Clin J Am Soc Nephrol 6:1009-17. 2011
    ..A recently described entity referred to as GN with C3 deposition (GN-C3) bears many similarities to DDD. The purpose of this study was to evaluate AP function in cases of GN-C3...
  31. ncbi C-reactive protein and complement factor H in aged human eyes and eyes with age-related macular degeneration
    Imran A Bhutto
    Department of Ophthalmology, Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, Maryland 21287 9115, USA
    Br J Ophthalmol 95:1323-30. 2011
    ..A genetic variation in the gene encoding complement factor H (CFH) and plasma levels of C-reactive protein (CRP), a systemic marker of subclinical inflammation, have ..
  32. 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)...
  33. ncbi Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance
    Agustín Tortajada
    Departamento de Medicina Celular y Molecular, Centro de Investigaciones Biologicas CSIC, Ramiro de Maeztu 9, Madrid, Spain
    Kidney Int 81:56-63. 2012
    ....
  34. pmc Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains
    Matthew C Pickering
    Molecular Genetics and Rheumatology Section, Faculty of Medicine, Imperial College, London W12 0NN, England, UK
    J Exp Med 204:1249-56. 2007
    ....
  35. ncbi Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation
    Stefan Heinen
    Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Hans Knöll Institute, Jena, Germany
    Blood 114:2439-47. 2009
    ..This activity is distinct from complement factor H, and apparently factor H and CFHR1 control complement activation in a sequential manner...
  36. pmc Structure of complement fragment C3b-factor H and implications for host protection by complement regulators
    Jin Wu
    Crystal and Structural Chemistry, Bijvoet Center for Biomolecular Research, Department of Chemistry, Utrecht University, Utrecht, The Netherlands
    Nat Immunol 10:728-33. 2009
    ..Our results offer general models for complement regulation and provide structural explanations for disease-related mutations in the genes encoding both FH and C3b...
  37. 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)...
  38. pmc Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility
    Jian Zhao
    Division of Rheumatology, Department of Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS Genet 7:e1002079. 2011
    ....
  39. pmc miRNA-155 upregulation and complement factor H deficits in Down's syndrome
    Yuan Y Li
    Department of Ophthalmology, LSU Neuroscience Center, Louisiana State University Health Sciences Center, 2020 Gravier St, New Orleans, LA 70112, USA
    Neuroreport 23:168-73. 2012
    ..of a chromosome 21-encoded miRNA-155 and a decrease in the abundance of the miRNA-155 mRNA target complement factor H (CFH), an important repressor of the innate immune response...
  40. ncbi Serogroup B meningococcal vaccines-an unfinished story
    Manish Sadarangani
    Oxford Vaccine Group, Department of Paediatrics, University of Oxford, Oxford, UK
    Lancet Infect Dis 10:112-24. 2010
    ..Vaccines based on subcapsular antigens have recently produced promising results in early clinical trials, and the disease burden might be substantially reduced over the next few years...
  41. pmc Complement factor H deficiency accelerates development of lupus nephritis
    Lihua Bao
    Section of Nephrology, The University of Chicago, 5841 S Maryland Avenue, MC5100, Chicago, IL 60637, USA
    J Am Soc Nephrol 22:285-95. 2011
    b>Complement factor H (CfH) is a key regulator of the alternative pathway, and its presence on mouse platelets and podocytes allows the processing of immune complexes...
  42. pmc Basal laminar drusen caused by compound heterozygous variants in the CFH gene
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 82:516-23. 2008
    ..AMD) is a multifactorial disease that is strongly associated with the Tyr402His variant in the complement factor H (CFH) gene...
  43. 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
    ..This review summarises our current knowledge of the role of factor H in health and disease...
  44. pmc Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina
    Simon J Clark
    Faculty of Life Sciences, Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Oxford Road, Manchester M13 9PT, United Kingdom
    J Biol Chem 285:30192-202. 2010
    ..Recent genetic association studies have demonstrated that a common allele (402H) of the complement factor H (CFH) gene is a major risk factor for the development of AMD; CFH suppresses complement activation on host ..
  45. 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...
  46. pmc Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
    Daniel P Gale
    Division of Medicine, University College, London, UK
    Lancet 376:794-801. 2010
    ..We aimed to establish the genetic basis for a familial disorder of complement regulation associated with persistent microscopic haematuria, recurrent macroscopic haematuria, glomerulonephritis, and progressive renal failure...
  47. 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
    ..The variations in binding affinity of the two alleles indicate that complement activation and local inflammation in response to different targets will differ between His/His and Tyr/Tyr homozygotes...
  48. ncbi Synthesis of complement factor H by retinal pigment epithelial cells is down-regulated by oxidized photoreceptor outer segments
    Mei Chen
    Department of Ophthalmology, School of Medicine, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, Scotland AB25 2ZD, UK
    Exp Eye Res 84:635-45. 2007
    ..the pathogenesis of age-related macular degeneration (AMD), in part because certain gene polymorphisms in complement factor H (CFH), an important regulator of the alternative complement activation pathway, are high risk factors for ..
  49. pmc Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome
    Tamara Manuelian
    Hans Knoell Institute for Natural Products Research, Beutenbergstrasse 11a, D 07745 Jena, Germany
    J Clin Invest 111:1181-90. 2003
    ....
  50. ncbi 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...
  51. ncbi Factor H family proteins: on complement, microbes and human diseases
    P F Zipfel
    Hans Knoell Institute for Natural Products Research, Beutenbergstrasse 11a, D 07745 Jena, Germany
    Biochem Soc Trans 30:971-8. 2002
    ....
  52. pmc Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab
    A Y Lee
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Br J Ophthalmol 93:610-3. 2009
    To determine whether complement factor H (CFH) genotypes have a pharmacogenetic effect on the treatment of exudative age-related macular degeneration (AMD) with ranibizumab.
  53. ncbi Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
    Mihaly Jozsi
    Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany
    Blood 111:1512-4. 2008
    ..Screening for both factors is obviously relevant for HUS patients as reduction of CFH autoantibody levels represents a therapeutic option...
  54. ncbi Functional significance of factor H binding to Neisseria meningitidis
    Muriel C Schneider
    Centre for Molecular Microbiology and Infection, Imperial College London, UK
    J Immunol 176:7566-75. 2006
    ..meningitidis to avoid complement-mediated killing in the presence of human serum. Therefore, the recruitment of fH provides another mechanism by which this important human pathogen evades host innate immunity...
  55. pmc Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome
    Jessica Caprioli
    Mario Negri Institute for Pharmacologic Research, Clinical Research Center for Rare Diseases, Aldo e Cele Daccò, Bergamo, Italy
    Blood 108:1267-79. 2006
    ..We undertook genetic analysis on membrane cofactor protein (MCP), complement factor H (CFH), and factor I (IF) in 156 patients with non-Stx-HUS...
  56. pmc A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration
    Theru A Sivakumaran
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America
    PLoS ONE 6:e25598. 2011
    b>Complement factor H shows very strong association with Age-related Macular Degeneration (AMD), and recent data suggest that multiple causal variants are associated with disease...
  57. 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
    ..Furthermore, the data provide evidence for an association of systemic activation of the alternative complement pathway with genetic variants of CFH that were previously linked to AMD susceptibility...
  58. ncbi CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration
    Michael L Klein
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA
    Ophthalmology 115:1019-25. 2008
    ..To determine if CFH and LOC387715/ARMS2 genotypes influence treatment response to AREDS-type nutritional supplementation with antioxidants and zinc...
  59. pmc Causes of alternative pathway dysregulation in dense deposit disease
    Yuzhou Zhang
    Department of Otolaryngology Head and Neck Surgery, Caver College of Medicine, University of Iowa, 5270 CBRB Building, Iowa City, IA 52242, USA
    Clin J Am Soc Nephrol 7:265-74. 2012
    ..This study was designed to investigate the causes of alternative pathway dysregulation in a cohort of patients with dense deposit disease (DDD)...
  60. pmc Binding of complement factor H (fH) to Neisseria meningitidis is specific for human fH and inhibits complement activation by rat and rabbit sera
    Dan M Granoff
    Center for Immunobiology and Vaccine Development, Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
    Infect Immun 77:764-9. 2009
    b>Complement factor H (fH), a molecule that downregulates complement activation, binds to Neisseria meningitidis and increases resistance to serum bactericidal activity...
  61. ncbi No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese
    Norimoto Gotoh
    Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    Hum Genet 120:139-43. 2006
    ..In Caucasian, a polymorphism of the complement factor H gene (CFH), the C allele of rs1061170 (Y402H), was established as the first strong genetic factor for ..
  62. ncbi CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration
    Martin McKibbin
    Eye Clinic, St James s University Hospital, Leeds LS9 7TF, UK
    Br J Ophthalmol 96:208-12. 2012
    ....
  63. ncbi Complement evasion strategies of pathogens-acquisition of inhibitors and beyond
    Anna M Blom
    Lund University, Deptartment of Laboratory Medicine, University Hospital Malmo, Sweden
    Mol Immunol 46:2808-17. 2009
    ....
  64. ncbi Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases
    Marie Agnès Dragon-Durey
    INSERM U430, Institut des Cordeliers, Paris, France
    J Am Soc Nephrol 15:787-95. 2004
    ..This report emphasizes the variability in the clinical progression of kidney diseases associated with FH deficiencies. Genetic analysis reveals the molecular abnormalities associated with FH deficiencies to be polymorphous...
  65. pmc A meningococcal factor H binding protein mutant that eliminates factor H binding enhances protective antibody responses to vaccination
    Peter T Beernink
    Center for Immunobiology and Vaccine Development, Children s Hospital Oakland Research Institute, Oakland, CA 94609, USA
    J Immunol 186:3606-14. 2011
    ....
  66. 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
    ....
  67. pmc Characterization of diverse subvariants of the meningococcal factor H (fH) binding protein for their ability to bind fH, to mediate serum resistance, and to induce bactericidal antibodies
    Kate L Seib
    Molecular Genetics Unit, Novartis Vaccines, Via Fiorentina, 1, 53100 Siena, Italy
    Infect Immun 79:970-81. 2011
    ..Furthermore, cross-reactive bactericidal activity was seen within each variant group, although the degree of activity varied, suggesting that amino acid differences within each variant group influence the bactericidal antibody response...
  68. ncbi Complement factor H Y402H gene polymorphism and response to intravitreal bevacizumab in exudative age-related macular degeneration
    Christian Nischler
    Department of Ophthalmology, Paracelsus Private Medical University Salzburg, Salzburg, Austria
    Acta Ophthalmol 89:e344-9. 2011
    To determine whether different complement factor H (CFH) genotypes play a role in treatment of age-related macular degeneration (AMD) with intravitreal bevacizumab.
  69. pmc Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome
    Aude Servais
    Department of Nephrology, Necker Hospital, Paris, France
    J Med Genet 44:193-9. 2007
    ..In some instances, HUS may be associated with an unusual glomerulonephritis with isolated C3 deposits (glomerulonephritis C3). We determined whether HUS and glomerulonephritis C3 share common genetic susceptibility factors...
  70. pmc Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H
    S Rodríguez de Córdoba
    Centro de Investigaciones Biológicas and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain
    Clin Exp Immunol 151:1-13. 2008
    ..Several recent studies have described the association of genetic variations of the complement factor H gene (CFH) with atypical haemolytic uraemic syndrome (aHUS), age-related macular degeneration (AMD) and ..
  71. ncbi Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome
    Mihaly Jozsi
    Junior Research Group Cellular Immunobiology, Leibniz Institute for Natural Product Research and Infection Biology, Hans Knöll Institute, Jena, Germany
    Blood 110:1516-8. 2007
    ..These results suggest that aHUS-associated FH autoantibodies mimic the effect of C-terminal FH mutations, as they inhibit the regulatory function of FH at cell surfaces by blocking its C-terminal recognition region...
  72. ncbi Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration
    Christine Skerka
    Department of Infection Biology, Leibniz Institute for Natural Products Research and Infection Biology, Hans Knöll Institute, Jena, Germany
    Mol Immunol 44:3398-406. 2007
    The common variant in the human complement Factor H gene (CFH), with Tyr402His, is linked to age-related macular degeneration (AMD), a prevalent disorder leading to visual impairment and irreversible blindness in elderly patients...
  73. pmc Factor H facilitates the clearance of GBM bound iC3b by controlling C3 activation in fluid phase
    Danielle Paixao-Cavalcante
    Molecular Genetics and Rheumatology Section, Faculty of Medicine, Imperial College, Hammersmith Campus, Du Cane Road, London, W12 0NN, UK
    Mol Immunol 46:1942-50. 2009
    ..The implication is that successful therapy of DDD is likely to be achieved by therapies that inhibit C3 turnover in plasma...
  74. 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
  75. ncbi His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form
    Simon J Clark
    Medical Research Council MRC Immunochemistry Unit and Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, United Kingdom
    J Biol Chem 281:24713-20. 2006
    A polymorphism in complement factor H has recently been associated with age-related macular degeneration (AMD), the leading cause of blindness in the elderly...
  76. 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 ..
  77. ncbi Human complement Factor H modulates C1q-mediated phagocytosis of apoptotic cells
    Yu Hoi Kang
    MRC Immunochemistry Unit, Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK
    Immunobiology 217:455-64. 2012
    ..We conclude that under physiological conditions, Factor H may be important in controlling the inflammation which might arise from C1q deposition on apoptotic cells...
  78. pmc Enhanced bacteremia in human factor H transgenic rats infected by Neisseria meningitidis
    David M Vu
    Center for Immunobiology and Vaccine Development, Children s Hospital Oakland Research Institute, Oakland, California, USA
    Infect Immun 80:643-50. 2012
    ....
  79. pmc Loss of properdin exacerbates C3 glomerulopathy resulting from factor H deficiency
    Marieta M Ruseva
    Centre for Complement and Inflammation Research, Imperial College, London, United Kingdom
    J Am Soc Nephrol 24:43-52. 2013
    b>Complement factor H (CFH) is a negative regulator of the alternative pathway of complement, and properdin is the sole positive regulator...
  80. ncbi Altered function of factor I caused by amyloid beta: implication for pathogenesis of age-related macular degeneration from Drusen
    Jiying Wang
    Department of Ophthalmology and Visual Science, Tokyo Medical and Dental University, Tokyo, Japan
    J Immunol 181:712-20. 2008
    ..These findings link four factors that have been suggested to be associated with AMD: inflammation, complement activation, Abeta deposition, and drusen...
  81. ncbi Retinal pigment epithelial cells upregulate expression of complement factors after co-culture with activated T cells
    Helene B Juel
    Eye Research Unit, Department of International Health, Immunology and Microbiology, University of Copenhagen, ISIM 18 3, Blegdamsvej 3, 2100 Copenhagen, Denmark
    Exp Eye Res 92:180-8. 2011
    ..This is important for the further understanding of inflammatory ocular diseases such as uveitis and age-related macular degeneration...
  82. ncbi Genetic influences on the outcome of anti-vascular endothelial growth factor treatment in neovascular age-related macular degeneration
    Farshad Abedi
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Victoria, Australia
    Ophthalmology 120:1641-8. 2013
    ..To determine the association of genetic variants in known age-related macular degeneration (AMD) risk-associated genes with outcome of anti-vascular endothelial growth factor (VEGF) treatment in neovascular AMD...
  83. ncbi Choroidal thickness, vascular hyperpermeability, and complement factor H in age-related macular degeneration and polypoidal choroidal vasculopathy
    Pichai Jirarattanasopa
    Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
    Invest Ophthalmol Vis Sci 53:3663-72. 2012
    ..the relationship between subfoveal choroidal thickness, choroidal vascular hyperpermeability, and complement factor H (CFH) gene polymorphism in typical age-related macular degeneration (AMD) and polypoidal choroidal ..
  84. ncbi 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) ..
  85. ncbi Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome
    Anne Laure Sellier-Leclerc
    Service de Nephrologie, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, 48 Boulevard Serurier, 75 019 Paris, France
    J Am Soc Nephrol 18:2392-400. 2007
    ..New therapies are urgently needed, and further research should elucidate the unexplained HUS group...
  86. ncbi Genetic factors associated with age-related macular degeneration
    Nicolas Leveziel
    Department of Ophthalmology, Hopital Intercommunal de Creteil, University of Paris XII, Creteil, France
    Ophthalmologica 226:87-102. 2011
    ..This review emphasizes the clinical impact of the major genetic factors mainly located in the complement factor H gene and on the 10q26 locus, and their current and future implications for the management of AMD.
  87. ncbi Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration
    Julian Maller
    Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge St, Boston, Massachusetts 02114, USA
    Nat Genet 38:1055-9. 2006
    ..descent, we have identified a previously unrecognized common, noncoding variant in CFH, the gene encoding complement factor H, that substantially increases the influence of this locus on AMD, and we have strongly replicated the ..
  88. ncbi 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)...
  89. ncbi Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein
    S Krid
    Pediatric Nephrology, Hopital Necker Enfants Malades, Paris, France
    Am J Transplant 12:1938-44. 2012
    ..We conclude that eculizumab alone, without plasma therapy (plasma infusion and/or plasma exchange), is sufficient to prevent recurrence of aHUS and to maintain long-term graft function...
  90. ncbi Factor H binding to bone sialoprotein and osteopontin enables tumor cell evasion of complement-mediated attack
    N S Fedarko
    Division of Geriatrics, Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA
    J Biol Chem 275:16666-72. 2000
    ..In this report, we show that BSP and OPN form rapid and tight complexes with complement Factor H. Besides its key role in regulating complement-mediated cell lysis, Factor H also appears to play a role ..
  91. pmc Role of ocular complement factor H in a murine model of choroidal neovascularization
    Valeriy V Lyzogubov
    Department of Ophthalmology, Jones Eye Institute, Pat and Willard Walker Eye Research Center, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72205, USA
    Am J Pathol 177:1870-80. 2010
    The objective of this study was to explore the relationship between local (ie, ocular) complement factor H (CFH) and choroidal neovascularization (CNV) associated with wet age-related macular degeneration (AMD), a leading cause of ..
  92. pmc Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates
    Muriel C Schneider
    Centre for Molecular Microbiology and Infection, Imperial College, London SW7 2AZ, UK
    Nature 458:890-3. 2009
    ..complement is precisely controlled through membrane-bound and soluble plasma-regulatory proteins including complement factor H (fH; ref. 2), a 155 kDa protein composed of 20 domains (termed complement control protein repeats)...
  93. ncbi The effect of photo-oxidative stress and inflammatory cytokine on complement factor H expression in retinal pigment epithelial cells
    Ling Ing Lau
    Institute of Clinical Medicine, School ofMedicine, National Yang Ming University, Taipei, Taiwan
    Invest Ophthalmol Vis Sci 52:6832-41. 2011
    Genetic variation in complement factor H (CFH) has been implicated as a major risk factor for age-related macular degeneration (AMD)...
  94. pmc Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population
    Koji Tanaka
    Department of Ophthalmology, Nihon University School of Medicine, Tokyo, Japan
    Mol Vis 17:2751-8. 2011
    ..We aimed to investigate the relationships between single nucleotide polymorphisms (SNPs) in candidate genes and subtypes of AMD in the Japanese population...
  95. 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...
  96. pmc Interactions between human complement components factor H, factor I and C3b
    C J Soames
    MRC Immunochemistry Unit, Department of Biochemistry, University of Oxford, U K
    Biochem J 326:553-61. 1997
    ..Based on these results, a model of the interactions between factor H, factor I and C3(NH3) leading to the processing of C3(NH3) is proposed...
  97. pmc Functional characterization of Borrelia spielmanii outer surface proteins that interact with distinct members of the human factor H protein family and with plasminogen
    Annekatrin Seling
    Institute of Medical Microbiology and Infection Control, University Hospital of Frankfurt, Paul Ehrlich Str 40, D 60596 Frankfurt, Germany
    Infect Immun 78:39-48. 2010
    ..The mutation of His-79 to Arg did not inhibit binding of plasminogen, another known ligand of this group of borrelial outer-surface proteins...
  98. pmc CspA-mediated binding of human factor H inhibits complement deposition and confers serum resistance in Borrelia burgdorferi
    Melisha R Kenedy
    Department of Microbiology and Immunology, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    Infect Immun 77:2773-82. 2009
    ..The combined data lead us to conclude that the CspA-mediated binding of human FH confers serum resistance by directly inhibiting complement deposition on the surface of B. burgdorferi...
  99. pmc Complement factor H is expressed in adipose tissue in association with insulin resistance
    José María Moreno-Navarrete
    Department of Diabetes, Endocrinology and Nutrition, Institut d Investigació Biomédica de Girona, and CIBER Fisiopatologia Obesidad y Nutricion, Instituto de Salud Carlos III, Girona, Spain
    Diabetes 59:200-9. 2010
    ..Our objective was to study the associations between circulating and adipose tissue gene expressions of CFH and complement factor B (fB; CFB) with obesity and insulin resistance...
  100. ncbi Characterization of an NF-kappaB-regulated, miRNA-146a-mediated down-regulation of complement factor H (CFH) in metal-sulfate-stressed human brain cells
    Aileen I Pogue
    Neuroscience Center and Department of Ophthalmology, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA
    J Inorg Biochem 103:1591-5. 2009
    ..ROS)-mediated up-regulation of an NF-kappaB-sensitive miRNA-146a that down-regulates the expression of complement factor H (CFH), an important repressor of inflammation...
  101. 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)...

Research Grants63

  1. 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: ..
  2. 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 ..
  3. 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 ..
  4. Complement Factor H Haplotypes and Smoking in Age-Related Macular Degeneration
    Baerbel Rohrer; Fiscal Year: 2011
    ....
  5. 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 ..
  6. Micro RNA-146a (miRNA-146a) signaling in Alzheimers disease (AD)
    Walter J Lukiw; Fiscal Year: 2013
    ..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 ..
  7. 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...
  8. 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...
  9. 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...
  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. Adrenomedullin Signaling at the Maternal-Fetal Interface
    Kathleen M Caron; Fiscal Year: 2013
    ..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...
  12. Role of complement factor H and immunity in AMD: a novel transgenic model
    Rafael Ufret-Vincenty; Fiscal Year: 2013
    ..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...
  13. Membrane complement regulators in RPE degeneration and retinal injury
    Wenchao Song; Fiscal Year: 2013
    ..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...
  14. OPTICAL AND NEURAL CHANGES IN THE AGING VISUAL SYSTEM
    John S Werner; Fiscal Year: 2013
    ..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, ..
  15. Improved mutant meningococcal factor H binding protein vaccines
    PETER TRIP BEERNINK; Fiscal Year: 2013
    ..Meningococci use fHbp to bind complement factor H (fH) to evade host immunity;binding is specific for human fH...
  16. Complement and Pathogenic Mechanisms of AMD
    Catherine Bowes Rickman; Fiscal Year: 2013
    ..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...
  17. 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...
  18. Mitochondrial DNA Variations and Susceptibility to Oxidative Injury in the RPE
    Jiyang Cai; Fiscal Year: 2009
    ..30, 95% CI 1.25 - 7.17, p=0.01) following adjustment for known risk factors including complement factor H, LOC387715 gene on chromosome 10q26, age, gender and smoking status...
  19. 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 ..
  20. Gene Expression in Alzheimer's Disease
    Walter Lukiw; Fiscal Year: 2006
    ..abstract_text> ..
  21. Biological Factors for Age-Related Macular Degeneration
    Johanna Seddon; Fiscal Year: 2004
    ..abstract_text> ..
  22. Transgenic Rod Development and Function
    Baerbel Rohrer; Fiscal Year: 2005
    ..However, more importantly, it will provide avenues for studying gene defects at the single cell level not only in the retina, but in other systems as well. ..
  23. ROD NEURODEGENERATIVE AND PROTECTIVE GENES
    Baerbel Rohrer; Fiscal Year: 2005
    ..We expect to isolate common downstream target genes that are activated both during degeneration and neuroprotection. ..
  24. Novel Risk Factors for Chronic Kidney Disease
    Ronald Klein; Fiscal Year: 2008
    ..The new data may provide insights into the relative protective value of low levels of these markers on the incidence CKD in an aging population. [unreadable] [unreadable] [unreadable]..
  25. 2007 Small Intergin Binding Proteins Gordon Research Conference
    Neal Fedarko; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  26. Microvascular - Macrovascular Disease in Type 2 Diabetes
    Ronald Klein; Fiscal Year: 2005
    ....
  27. Small integrin-binding proteins and tumor progression
    Neal Fedarko; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  28. Molecular basis meningococcal group A capsular immunity
    Dan Granoff; Fiscal Year: 2007
    ..abstract_text> ..
  29. Retinal Microvascular Characteristics/Vascular Disorders
    Ronald Klein; Fiscal Year: 2003
    ..abstract_text> ..
  30. Multi-Ethnic Study of Atherosclerosis-Eye Study
    Ronald Klein; Fiscal Year: 2005
    ..insights into the relative contribution of microvascular disease to the pathophysiology and natural history of subclinical and clinical cardiovascular disease, in representative populations of men and women of diverse ethnicities ..
  31. Neisseria meningitidis antigens expressed in infection
    Dan Granoff; Fiscal Year: 2005
    ..meningitidis disease, including group B strains for which there is currently no vaccine available. Also, characterization of gene expression in an in vivo model will lead to a better understanding of meningococcal pathogenesis. ..
  32. WISCONSIN EPIDEMIOLOGICAL STUDY OF CARDIOVASCULAR DISEAS
    Ronald Klein; Fiscal Year: 2002
    ....
  33. 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...
  34. RETINAL ARTERIOLAR ABNORMALITIES AND CV MORTALITY
    Ronald Klein; Fiscal Year: 2002
    ..Data from this study will improve the understanding of the association between microvascular characteristics and cardiovascular mortality. ..
  35. Genetics of Age-Related Macular Degeneration
    Michael Klein; Fiscal Year: 2007
    ..abstract_text> ..
  36. Molecular Risk Factors for Age-Related Maculopathy
    Debra Schaumberg; Fiscal Year: 2004
    ..abstract_text> ..
  37. Mechanism of aPL antibody-induced Pregnancy loss
    Jane E Salmon; Fiscal Year: 2010
    ..Additionally, understanding how aPL antibodies "cause" pregnancy loss may translate into new concepts about maternal-fetal tolerance and miscarriages in general and benefit women with non-APS- related pregnancy complications. ..
  38. C3aR and C5aR Modulate T-cell Responses in the MRL Mouse
    Michael C Braun; Fiscal Year: 2010
    ..These studies are designed to advance our understanding of the mechanisms by which complement activation products modulate cellular immune responses and renal parenchymal responses in immune mediated renal injury. ..
  39. Molecular Genetics of X-L Cone-Rod Dystrophy
    Michael Gorin; Fiscal Year: 2003
    ..This study will help to resolve issues of allelic and genetic heterogeneity for X-linked retinal degenerations and will further our understanding of the biology of degenerative eye diseases. ..
  40. Genetic Etiologies of Primary Open Angle Glaucoma
    Janey Wiggs; Fiscal Year: 2009
    ..Specific genetic defects will be correlated with clinical phenotype by investigating familial aggregation of clinical parameters and looking for evidence of gene/gene interactions and how these interactions may influence phenotype. ..
  41. Structure and Function of ADAMTS13 Metalloprotease
    X Long Zheng; Fiscal Year: 2009
    ....
  42. THE PATHOBIOLOGY OF INHERITED RETINAL DEGENERATION
    Dean Bok; Fiscal Year: 2006
    ..abstract_text> ..
  43. Glycosaminoglycans For IC Pathophysiology and Prognosis
    Vinata Lokeshwar; Fiscal Year: 2005
    ..Furthermore, it might yield a test or a combination of tests that can be used in the follow-up of IC patients and for monitoring 9 treatment responses. ..
  44. Membranoproliferative Glomerulonephritis Workshop
    Richard Smith; Fiscal Year: 2004
    ..abstract_text> ..
  45. Predicting Nephropathy in Type II Diabetes
    Patrick Walker; Fiscal Year: 2005
    ..These phase 1 proof of concept and feasibility studies will also lay the groundwork for more definitive studies related to predictive value as well as future preventive therapies with agents targeted toward a causative mechanism. ..
  46. Validation of topography-biased antibody libraries
    Sylvia Smith; Fiscal Year: 2005
    ..Furthermore, this study will lay the foundation for further development of highly specific and high affinity antibodies to a diverse array of toxins. ..
  47. Identifying the RP10 gene causing retinitis pigmentosa
    Stephen Daiger; Fiscal Year: 2004
    ..abstract_text> ..
  48. FAMILIAL PRIMARY OPEN ANGLE GLAUCOMA
    Janey Wiggs; Fiscal Year: 2004
    ..Initial genome screens to identify genes responsible for two POAG risk factors, ocular hypertension (OHT) and pseudoexfoliation (PEX), will be performed. ..
  49. EXTRACELLULAR MATRIX ABNORMALITIES IN CORNEAL EDEMA
    MARIA KENNEY; Fiscal Year: 2002
    ....
  50. Linkage Studies of Quantitative Ocular Traits
    Barbara Klein; Fiscal Year: 2006
    ..Subsequent follow-up with fine mapping of areas of interest in the genome is planned. ..
  51. The Role of C3a and C5a in BEA Induced Nephritis
    Michael Braun; Fiscal Year: 2006
    ..At the completion of this Award, the candidate will be prepared to continue as a highly productive independent investigator in the area of renal immunopathogenesis ..
  52. Office for Access to Biomedical Research and Training
    CHARLES BIGGER; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  53. LINKAGE STUDY OF JUVENILE GLAUCOMA
    Janey Wiggs; Fiscal Year: 2008
    ..3) Screen candidate genes located in the RIEG2 region on chromosome 13q14. 4) Correlate mutations in genes known to cause glaucoma with clinical phenotypes. ..
  54. BIOFUNCTIONAL MATERIALS CONTAINING PROTEIN MIMETICS
    WEIYUAN KAO; Fiscal Year: 2001
    ..The controlled release of these bioactive factors may have therapeutic values in the fundamental processes of inflammation, biocompatibility, and tissue healing. ..
  55. Complement as a Mediator of Recurrent Miscarriages
    Jane Salmon; Fiscal Year: 2008
    ..In addition, our studies will provide insights into mechanisms by which complement-induces disease and suggest means to prevent, arrest, or modify complement-mediated inflammatory disorders. [unreadable] [unreadable]..
  56. BIOFUNCTIONAL MATERIALS CONTAINING PROTEIN MIMETICS
    WEIYUAN KAO; Fiscal Year: 2007
    ....
  57. Novel Mouse Models of Age-Related Macular Degeneration
    Jayakrishna Ambati; Fiscal Year: 2007
    ..Significance: These studies will provide mechanistic insights into and more effective treatments for AMD. ..
  58. Hinxton Retreat Workshop on Membranoproliferative Glomerulonephritis Type II
    Richard Smith; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  59. Asymmetric Dimethylarginine (ADMA), Genetic Variation, and Cardiovascular Disease
    Jennifer Pai; Fiscal Year: 2008
    ..This proposal seeks to understand the influence of ADMA on CHD risk, its mediators, and also utilize these findings to improve overall risk prediction of cardiovascular disease. [unreadable] [unreadable] [unreadable] [unreadable]..
  60. Statistical models for genetic studies of AMD
    Silke Schmidt; Fiscal Year: 2005
    ..Significance: Our long-term goal is to advance our knowledge about the genetic and environmental risk factors for AMD to ultimately aid in the development of better prevention and treatment strategies. ..
  61. Preventing choroidal neovascularization by long-term transscleral drug delivery
    PURAN BORA; Fiscal Year: 2006
    ..For proof-of-concept, we will use a novel, human protein-based therapy that has shown great potential in preliminary animal studies. [unreadable] [unreadable] [unreadable] [unreadable]..
  62. ZAP70 IN T CELL DEVELOPMENT
    John Atkinson; Fiscal Year: 2002
    ..Moreover, these studies may provide additional mechanistic information for therapeutic interventions in drug design for T cell lymphomas, immunodeficiencies, autoimmune diseases, and transplantation rejection. ..