genetic predisposition to disease

Summary

Summary: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

Top Publications

  1. pmc New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    Josée Dupuis
    Department of Biostatistics, Boston University School of Public Health, Massachusetts, USA
    Nat Genet 42:105-16. 2010
  2. pmc Genotype score in addition to common risk factors for prediction of type 2 diabetes
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    N Engl J Med 359:2208-19. 2008
  3. ncbi Estimation of effect size distribution from genome-wide association studies and implications for future discoveries
    Ju Hyun Park
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services, Rockville, Maryland, USA
    Nat Genet 42:570-5. 2010
  4. pmc Finding the missing heritability of complex diseases
    Teri A Manolio
    National Human Genome Research Institute, Building 31, Room 4B09, 31 Center Drive, MSC 2152, Bethesda, Maryland 20892 2152, USA
    Nature 461:747-53. 2009
  5. pmc Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    Lucia A Hindorff
    Office of Population Genomics, Genome Technology Branch, National Human Genome Research Institute, and National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 106:9362-7. 2009
  6. pmc Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
    Elizabeth K Speliotes
    Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA
    Nat Genet 42:937-48. 2010
  7. pmc Common SNPs explain a large proportion of the heritability for human height
    Jian Yang
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Nat Genet 42:565-9. 2010
  8. pmc Hundreds of variants clustered in genomic loci and biological pathways affect human height
    Hana Lango Allen
    Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter EX1 2LU, UK
    Nature 467:832-8. 2010
  9. pmc Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
    Benjamin F Voight
    Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA
    Nat Genet 42:579-89. 2010
  10. pmc Patterns and rates of exonic de novo mutations in autism spectrum disorders
    Benjamin M Neale
    Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 485:242-5. 2012

Research Grants

  1. Mechanisms for Racial Disparity in Preterm Birth
    Jane Hitti; Fiscal Year: 2006
  2. Identification of Genetic and Epigenetic Alterations in Spondyloarthritis
    Tibor T Glant; Fiscal Year: 2013
  3. Brain Activation responses in adolescents with genetic predisposition to obesity
    Susan Carnell; Fiscal Year: 2011
  4. MOLECULAR BASIS OF INSULIN RESISTANCE
    Maureen J Charron; Fiscal Year: 2010
  5. Hepcidin-based screening for infantile iron deficiency
    Mark D Fleming; Fiscal Year: 2010
  6. Analyzer for Monitoring Personal Environmental Exposure to Fluids and Materials
    MATTHEW CUSACK; Fiscal Year: 2010
  7. Exome re-sequencing candidate loci for familial essential tremor
    Barry E Kosofsky; Fiscal Year: 2012
  8. Effect of diet & commensal bacteria on diabetes outcome in NOD mouse
    Li Wen; Fiscal Year: 2010
  9. Signaling Mechanisms in Alcohol Drinking Behaviors
    Subhash C Pandey; Fiscal Year: 2013
  10. Molecular Epidemiology of DNA Repair in Head and Neck Cancer
    Qingyi Wei; Fiscal Year: 2012

Detail Information

Publications324 found, 100 shown here

  1. pmc New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    Josée Dupuis
    Department of Biostatistics, Boston University School of Public Health, Massachusetts, USA
    Nat Genet 42:105-16. 2010
    ....
  2. pmc Genotype score in addition to common risk factors for prediction of type 2 diabetes
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    N Engl J Med 359:2208-19. 2008
    ..We tested the hypothesis that knowledge of these loci allows better prediction of risk than knowledge of common phenotypic risk factors alone...
  3. ncbi Estimation of effect size distribution from genome-wide association studies and implications for future discoveries
    Ju Hyun Park
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services, Rockville, Maryland, USA
    Nat Genet 42:570-5. 2010
    ..However, for BPC cancers, which have modest familial aggregation, our analysis suggests that risk models based on common variants alone will have modest discriminatory power (63.5% area under curve), even with new discoveries...
  4. pmc Finding the missing heritability of complex diseases
    Teri A Manolio
    National Human Genome Research Institute, Building 31, Room 4B09, 31 Center Drive, MSC 2152, Bethesda, Maryland 20892 2152, USA
    Nature 461:747-53. 2009
    ....
  5. pmc Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    Lucia A Hindorff
    Office of Population Genomics, Genome Technology Branch, National Human Genome Research Institute, and National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 106:9362-7. 2009
    ..This new online resource, together with bioinformatic predictions of the underlying functionality at trait/disease-associated loci, is well-suited to guide future investigations of the role of common variants in complex disease etiology...
  6. pmc Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
    Elizabeth K Speliotes
    Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA
    Nat Genet 42:937-48. 2010
    ..Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation...
  7. pmc Common SNPs explain a large proportion of the heritability for human height
    Jian Yang
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Nat Genet 42:565-9. 2010
    ....
  8. pmc Hundreds of variants clustered in genomic loci and biological pathways affect human height
    Hana Lango Allen
    Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter EX1 2LU, UK
    Nature 467:832-8. 2010
    ....
  9. pmc Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
    Benjamin F Voight
    Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA
    Nat Genet 42:579-89. 2010
    ..We also show that a high proportion of T2D susceptibility loci harbor independent association signals influencing apparently unrelated complex traits...
  10. pmc Patterns and rates of exonic de novo mutations in autism spectrum disorders
    Benjamin M Neale
    Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 485:242-5. 2012
    ..Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors...
  11. pmc Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
    Andre Franke
    Institute of Clinical Molecular Biology, Christian Albrechts University Kiel, Kiel, Germany
    Nat Genet 42:1118-25. 2010
    ..Combined with previously confirmed loci, these results identify 71 distinct loci with genome-wide significant evidence for association with Crohn's disease...
  12. pmc Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA
    Nature 485:246-50. 2012
    ..Combined with copy number variant (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics...
  13. pmc De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    Stephan J Sanders
    Program on Neurogenetics, Child Study Center, Department of Psychiatry, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA
    Nature 485:237-41. 2012
    ....
  14. pmc Origins and functional impact of copy number variation in the human genome
    Donald F Conrad
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA UK
    Nature 464:704-12. 2010
    ....
  15. pmc The mystery of missing heritability: Genetic interactions create phantom heritability
    Or Zuk
    Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
    Proc Natl Acad Sci U S A 109:1193-8. 2012
    ..Finally, we describe a method for estimating heritability from isolated populations that is not inflated by genetic interactions...
  16. pmc Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:30-5. 2010
    ..Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits...
  17. pmc Functional impact of global rare copy number variation in autism spectrum disorders
    Dalila Pinto
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
    Nature 466:368-72. 2010
    ..Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways...
  18. pmc Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
    SHAUN M PURCELL
    Nature 460:748-52. 2009
    ..We show that this component also contributes to the risk of bipolar disorder, but not to several non-psychiatric diseases...
  19. pmc Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
    Denise Harold
    Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
    Nat Genet 41:1088-93. 2009
    ..5 x 10(-10), odds ratio = 0.86; rs3851179, P = 1.3 x 10(-9), odds ratio = 0.86)...
  20. ncbi Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland
    P Lichtenstein
    Department of Medical Epidemiology, Karolinska Institute, Stockholm, Sweden
    N Engl J Med 343:78-85. 2000
    ..The contribution of hereditary factors to the causation of sporadic cancer is unclear. Studies of twins make it possible to estimate the overall contribution of inherited genes to the development of malignant diseases...
  21. pmc Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
    Sharon R Browning
    Department of Statistics, The University of Auckland, Auckland, New Zealand
    Am J Hum Genet 81:1084-97. 2007
    ..1 days of computing time, with 99% of masked alleles imputed correctly. Our method is implemented in the Beagle software package, which is freely available...
  22. ncbi Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene
    Avshalom Caspi
    Medical Research Council Social, Genetic, and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College London, PO80 De Crespigny Park, London, SE5 8AF, UK
    Science 301:386-9. 2003
    ..This epidemiological study thus provides evidence of a gene-by-environment interaction, in which an individual's response to environmental insults is moderated by his or her genetic makeup...
  23. pmc A large-scale, consortium-based genomewide association study of asthma
    Miriam F Moffatt
    National Heart and Lung Institute, Imperial College, London, United Kingdom
    N Engl J Med 363:1211-21. 2010
    ..Genetic risk factors may be useful in identifying subtypes of asthma and determining whether intermediate phenotypes, such as elevation of the total serum IgE level, are causally linked to disease...
  24. pmc Missing heritability and strategies for finding the underlying causes of complex disease
    Evan E Eichler
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195 5065, USA
    Nat Rev Genet 11:446-50. 2010
    ....
  25. ncbi An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
    Matthew R Nelson
    Department of Quantitative Sciences, GlaxoSmithKline GSK, Research Triangle Park, NC 27709, USA
    Science 337:100-4. 2012
    ..We conclude that because of rapid population growth and weak purifying selection, human populations harbor an abundance of rare variants, many of which are deleterious and have relevance to understanding disease risk...
  26. pmc McKusick's Online Mendelian Inheritance in Man (OMIM)
    Joanna Amberger
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nucleic Acids Res 37:D793-6. 2009
    ..Approximately 70 new entries are added and 700 entries are updated per month. OMIM is expanding content and organization in response to shifting biological paradigms and advancing biotechnology...
  27. ncbi Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
    Jean Charles Lambert
    INSERM U744, Lille, France
    Nat Genet 41:1094-9. 2009
    ..Previous biological studies support roles of CLU and CR1 in the clearance of beta amyloid (Abeta) peptide, the principal constituent of amyloid plaques, which are one of the major brain lesions of individuals with Alzheimer's disease...
  28. pmc Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
    Paul Hollingworth
    Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Neurosciences and Mental Health Research Institute, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
    Nat Genet 43:429-35. 2011
    ..0 × 10(-4); including ADGC data, meta P = 8.6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10))...
  29. pmc Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
    Adam C Naj
    The John P Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA
    Nat Genet 43:436-41. 2011
    ..3 × 10(-8), P(J) = 1.9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility...
  30. ncbi Detecting recent positive selection in the human genome from haplotype structure
    Pardis C Sabeti
    Whitehead Institute MIT Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nature 419:832-7. 2002
    ..More generally, the method could be used to scan the entire genome for evidence of recent positive selection...
  31. pmc Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
    Heribert Schunkert
    Universitat zu Lubeck, Medizinische Klinik II, Lubeck, Germany
    Nat Genet 43:333-8. 2011
    ..Finally, five of the new CAD risk loci appear to have pleiotropic effects, showing strong association with various other human diseases or traits...
  32. pmc Genome-wide association study reveals genetic risk underlying Parkinson's disease
    Javier Simon-Sanchez
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 41:1308-12. 2009
    ..14, P = 1.55 x 10(-5)). These data demonstrate an unequivocal role for common genetic variants in the etiology of typical PD and suggest population-specific genetic heterogeneity in this disease...
  33. pmc Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    Joseph T Glessner
    Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 459:569-73. 2009
    ....
  34. pmc Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
    S Hong Lee
    Queensland Brain Institute, University of Queensland, Brisbane, Australia
    Nat Genet 44:247-50. 2012
    ..6 × 10(-8)). These results are consistent with a polygenic genetic architecture and imply more individual SNP associations will be detected for this disease as sample size increases...
  35. pmc A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    Timothy M Frayling
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK
    Science 316:889-94. 2007
    ..67-fold increased odds of obesity when compared with those not inheriting a risk allele. This association was observed from age 7 years upward and reflects a specific increase in fat mass...
  36. pmc Detecting gene-gene interactions that underlie human diseases
    Heather J Cordell
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Nat Rev Genet 10:392-404. 2009
    ..I also discuss the difficulties in determining the biological relevance of statistical interactions...
  37. ncbi Unravelling the pathogenesis of inflammatory bowel disease
    R J Xavier
    Gastrointestinal Unit and Center for the Study of Inflammatory Bowel Disease, and, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 448:427-34. 2007
    ..Third, murine models, which exhibit many of the features of ulcerative colitis and seem to be bacteria-driven, have helped unravel the pathogenesis/mucosal immunopathology of IBD...
  38. pmc Genetics and pathogenesis of inflammatory bowel disease
    Bernard Khor
    Gastrointestinal Unit and Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 474:307-17. 2011
    ....
  39. pmc Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
    Eli A Stahl
    Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
    Nat Genet 42:508-14. 2010
    ..An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles...
  40. pmc Genetics and beyond--the transcriptome of human monocytes and disease susceptibility
    Tanja Zeller
    Medizinische Klinik und Poliklinik, Johannes Gutenberg Universitat Mainz, Mainz, Germany
    PLoS ONE 5:e10693. 2010
    ....
  41. pmc High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis
    Steve Eyre
    Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK
    Nat Genet 44:1336-40. 2012
    ..Bioinformatic analyses generated strong hypotheses for the causal SNP at seven loci. This study illustrates the advantages of dense SNP mapping analysis to inform subsequent functional investigations...
  42. ncbi A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    Y Miki
    Department of Medical Informatics, University of Utah Medical Center, Salt Lake City 84132
    Science 266:66-71. 1994
    ..Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology...
  43. ncbi Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits
    S Purcell
    Social, Genetics and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College London, De Crespigny Park, UK
    Bioinformatics 19:149-50. 2003
    ..A website for performing power calculations for the design of linkage and association genetic mapping studies of complex traits...
  44. ncbi Rare and common variants: twenty arguments
    Greg Gibson
    School of Biology and Center for Integrative Genomics, 770 State Street, Georgia Institute of Technology, Atlanta, Georgia 30332, USA gatech edu
    Nat Rev Genet 13:135-45. 2011
    ..Here I review 20 arguments for and against each of these models of the genetic basis of complex traits and conclude that both classes of effect can be readily reconciled...
  45. pmc A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
    Amy Strange
    Wellcome Trust Centre for Human Genetics, Oxford, UK
    Nat Genet 42:985-90. 2010
    ..Our findings implicate pathways that integrate epidermal barrier dysfunction with innate and adaptive immune dysregulation in psoriasis pathogenesis...
  46. pmc Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study
    Eleftheria Zeggini
    Wellcome Trust Sanger Institute, Morgan Building, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK
    Lancet 380:815-23. 2012
    ..Osteoarthritis has a strong genetic component but the success of previous genetic studies has been restricted due to insufficient sample sizes and phenotype heterogeneity...
  47. pmc Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles
    Benjamin P Fairfax
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 44:502-10. 2012
    ..In summary, we show that mapping gene expression in defined primary cell populations identifies new cell type-specific trans-regulated networks and provides insights into the genetic basis of disease susceptibility...
  48. pmc Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 43:585-9. 2011
    ..Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs...
  49. pmc Common variants on chromosome 6p22.1 are associated with schizophrenia
    Jianxin Shi
    Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California 94304, USA
    Nature 460:753-7. 2009
    ..These results demonstrate that common schizophrenia susceptibility alleles can be detected. The characterization of these signals will suggest important directions for research on susceptibility mechanisms...
  50. ncbi SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci
    Yong Yong Shi
    Bio X Life Science Research Center, Shanghai Jiao Tong University, Shanghai, China
    Cell Res 15:97-8. 2005
    ..The platform has been well evaluated by several sets of real data...
  51. ncbi Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database
    Nicole C Allen
    Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Nat Genet 40:827-34. 2008
    ..As such, it could serve as a model for field synopses of genetic associations in other common and genetically complex disorders...
  52. pmc Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians
    Yoon Shin Cho
    Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Chungcheongbuk Do, Cheongwon Gun, Gangoe myeon, Yeonje ri, Korea
    Nat Genet 44:67-72. 2012
    ..KCNK16 may regulate glucose-dependent insulin secretion in the pancreas. These findings, derived from an east Asian population, provide new perspectives on the etiology of T2D...
  53. ncbi Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
    Catalina Betancur
    INSERM, U952, Universite Pierre et Marie Curie, Paris, France
    Brain Res 1380:42-77. 2011
    ..Finally, the data provide strong support for high-resolution DNA microarrays as well as whole-exome and whole-genome sequencing as critical approaches for identifying the genetic causes of ASDs...
  54. pmc Mapping the genetic architecture of gene expression in human liver
    Eric E Schadt
    Rosetta Inpharmatics, Seattle, Washington, United States of America
    PLoS Biol 6:e107. 2008
    ..We also identify SORT1 and CELSR2 as candidate susceptibility genes for a locus recently associated with coronary artery disease and plasma low-density lipoprotein cholesterol levels in the process...
  55. ncbi The endophenotype concept in psychiatry: etymology and strategic intentions
    Irving I Gottesman
    Department of Psychiatry, University of Minnesota Medical School, Minneapolis 55454, USA
    Am J Psychiatry 160:636-45. 2003
    ..The authors discuss the etymology and strategy behind the use of endophenotypes in neuropsychiatric research and, more generally, in research on other diseases with complex genetics...
  56. pmc Signals of recent positive selection in a worldwide sample of human populations
    Joseph K Pickrell
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Genome Res 19:826-37. 2009
    ..Finally, we search for local adaptation between geographically close populations, and highlight several examples...
  57. ncbi Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
    Wataru Satake
    Division of Neurology Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan
    Nat Genet 41:1303-7. 2009
    ..Our results identify two new PD susceptibility loci, show involvement of autosomal dominant parkinsonism loci in typical PD and suggest that population differences contribute to genetic heterogeneity in PD...
  58. ncbi Analysing biological pathways in genome-wide association studies
    Kai Wang
    Center for Applied Genomics, The Childrens Hospital of Philadelphia, Pennsylvania 19104, USA
    Nat Rev Genet 11:843-54. 2010
    ..Here we review the development of pathway-based approaches for GWA studies, discuss their practical use and caveats, and suggest that pathway-based approaches may also be useful for future GWA studies with sequencing data...
  59. pmc From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
    Kiran Musunuru
    Cardiovascular Research Center and Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 466:714-9. 2010
    ..We also demonstrate that common noncoding DNA variants identified by GWASs can directly contribute to clinical phenotypes...
  60. ncbi Structural variation in the human genome and its role in disease
    Paweł Stankiewicz
    Department of Molecular, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Med 61:437-55. 2010
    ..Both recombination- and replication-based mechanisms for CNV formation have been described...
  61. ncbi Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix
    J Li
    The Ministry of Education MOE Key Laboratory of Bioinformatics, Department of Automation, Tsinghua University, Beijing, People s Republic of China
    Heredity (Edinb) 95:221-7. 2005
    ..With its efficiency and accuracy, the M(eff) method provides an alternative to computationally intensive methods such as the permutation test...
  62. pmc Pathway-based approaches for analysis of genomewide association studies
    Kai Wang
    Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA
    Am J Hum Genet 81:1278-83. 2007
    ....
  63. pmc Common variants conferring risk of schizophrenia
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nature 460:744-7. 2009
    ..2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition...
  64. ncbi Identification of loci associated with schizophrenia by genome-wide association and follow-up
    Michael C O'Donovan
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Nat Genet 40:1053-5. 2008
    ..Meta-analysis provided strongest evidence for association around ZNF804A (P = 1.61 x 10(-7)) and this strengthened when the affected phenotype included bipolar disorder (P = 9.96 x 10(-9))...
  65. pmc Common genetic determinants of vitamin D insufficiency: a genome-wide association study
    Thomas J Wang
    Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    Lancet 376:180-8. 2010
    ..We aimed to identify common genetic variants affecting vitamin D concentrations and risk of insufficiency...
  66. pmc The human disease network
    Kwang Il Goh
    Center for Complex Network Research and Department of Physics, University of Notre Dame, Notre Dame, IN 46556, USA
    Proc Natl Acad Sci U S A 104:8685-90. 2007
    ..A selection-based model explains the observed difference between essential and disease genes and also suggests that diseases caused by somatic mutations should not be peripheral, a prediction we confirm for cancer genes...
  67. ncbi A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25
    Rayjean J Hung
    International Agency for Research on Cancer IARC, Lyon 69008, France
    Nature 452:633-7. 2008
    ..Our results provide compelling evidence of a locus at 15q25 predisposing to lung cancer, and reinforce interest in nicotinic acetylcholine receptors as potential disease candidates and chemopreventative targets...
  68. 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
    ..This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies...
  69. ncbi Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review
    Ammarin Thakkinstian
    Clinical Epidemiology Unit, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
    Am J Epidemiol 162:201-11. 2005
    ..001). Haplotype analysis suggests that there may be an interaction between the two sites, with a lower risk of asthma associated with the Glu27 allele (compared with Gln27), and that this risk is modified by the allele at position 16...
  70. pmc Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    Jeffrey C Barrett
    Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Nat Genet 40:955-62. 2008
    ..The expanded molecular understanding of the basis of this disease offers promise for informed therapeutic development...
  71. pmc Genome-wide association study identifies five new breast cancer susceptibility loci
    Clare Turnbull
    Section of Cancer Genetics, The Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 42:504-7. 2010
    ....
  72. pmc Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
    Manuel A R Ferreira
    Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 40:1056-8. 2008
    ..0 x 10(-8), rs1006737). Our results suggest that ion channelopathies may be involved in the pathogenesis of bipolar disorder...
  73. ncbi Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions
    Lance W Hahn
    Program in Human Genetics and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical School, Nashville, TN 37232 0700, USA
    Bioinformatics 19:376-82. 2003
    ..In this paper, we describe the MDR approach and an MDR software package...
  74. pmc A genome-wide scan for common alleles affecting risk for autism
    Richard Anney
    Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland
    Hum Mol Genet 19:4072-82. 2010
    ..Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C...
  75. ncbi Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk
    Malcolm G Dunlop
    Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh and Medical Research Council MRC Human Genetics Unit, Edinburgh, UK
    Nat Genet 44:770-6. 2012
    ..2 (rs5934683, near SHROOM2; P = 7.30 × 10(-10)) This brings the number of independent loci associated with CRC risk to 20 and provides further insight into the genetic architecture of inherited susceptibility to CRC...
  76. ncbi A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits
    Yoon Shin Cho
    Center for Genome Science, National Institute of Health, Seoul, Korea
    Nat Genet 41:527-34. 2009
    ..2 x 10(-3), P = 1.4 x 10(-7) and P = 6.0 x 10(-4), respectively). This large-scale GWA analysis of well-characterized Korean population-based samples highlights previously unknown biological pathways...
  77. pmc Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder
    Peter Holmans
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Heath Park, CF23 6BQ Cardiff, UK
    Am J Hum Genet 85:13-24. 2009
    ..The method was also applied to a meta-analysis of bipolar disorder, and it implicated the modulation of transcription and cellular activity, including that which occurs via hormonal action, as an important player in pathogenesis...
  78. pmc Targeted capture and massively parallel sequencing of 12 human exomes
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 461:272-6. 2009
    ..This strategy may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact...
  79. ncbi A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
    Thorgeir E Thorgeirsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nature 452:638-42. 2008
    ..The findings provide a case study of a gene-environment interaction, highlighting the role of nicotine addiction in the pathology of other serious diseases...
  80. ncbi Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
    Colin N A Palmer
    Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 38:441-6. 2006
    ..These variants also show highly significant association with asthma occurring in the context of atopic dermatitis. This work establishes a key role for impaired skin barrier function in the development of atopic disease...
  81. ncbi Autism spectrum disorders: developmental disconnection syndromes
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology and Semel Institute, David Geffen School of Medicine at University of California Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095, USA
    Curr Opin Neurobiol 17:103-11. 2007
    ..This concept of developmental disconnection can accommodate the specific neurobehavioral features that are observed in autism, their emergence during development, and the heterogeneity of autism etiology, behaviors and cognition...
  82. pmc Neuregulin 1 and susceptibility to schizophrenia
    Hreinn Stefansson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 71:877-92. 2002
    ..We also demonstrate that the behavioral phenotypes of the NRG1 hypomorphs are partially reversible with clozapine, an atypical antipsychotic drug used to treat schizophrenia...
  83. pmc Rare variants create synthetic genome-wide associations
    Samuel P Dickson
    Institute for Genome Sciences and Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina, USA
    PLoS Biol 8:e1000294. 2010
    ..In conclusion, uncommon or rare genetic variants can easily create synthetic associations that are credited to common variants, and this possibility requires careful consideration in the interpretation and follow up of GWAS signals...
  84. pmc Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways
    Rajan P Nair
    Department of Dermatology, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 41:199-204. 2009
    ..Our results expand the catalog of genetic loci implicated in psoriasis susceptibility and suggest priority targets for study in other auto-immune disorders...
  85. pmc Advances in autism genetics: on the threshold of a new neurobiology
    Brett S Abrahams
    Neurology Department, and Semel Institute for Neuroscience and Behaviour, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095 1769 USA
    Nat Rev Genet 9:341-55. 2008
    ..Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme...
  86. pmc Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
    Yurii S Aulchenko
    1 Department of Epidemiology and Biostatistics, Erasmus University Medical Center, P O Box 2040, 3000 CA Rotterdam, The Netherlands 2 These authors contributed equally to this work
    Nat Genet 41:47-55. 2009
    ..001) and coronary heart disease incidence (P = 0.04). The genetic risk score improves the screening of high-risk groups of dyslipidemia over classical risk factors...
  87. pmc Genome-wide analysis of genetic loci associated with Alzheimer disease
    Sudha Seshadri
    Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA
    JAMA 303:1832-40. 2010
    ..Genome-wide association studies (GWAS) have recently identified CLU, PICALM, and CR1 as novel genes for late-onset Alzheimer disease (AD)...
  88. ncbi Uncovering the roles of rare variants in common disease through whole-genome sequencing
    Elizabeth T Cirulli
    Center for Human Genome Variation, Duke University Medical School, Durham, North Carolina 27708, USA
    Nat Rev Genet 11:415-25. 2010
    ..Here, we evaluate the evidence for an important role of rare gene variants of major effect in common diseases and outline discovery strategies for their identification...
  89. pmc Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
    Sekar Kathiresan
    Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 41:334-41. 2009
    ..SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk...
  90. pmc Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
    Wei Chen
    Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA
    Proc Natl Acad Sci U S A 107:7401-6. 2010
    ..Our studies extend the catalog of AMD associated loci, help identify individuals at high risk of disease, and provide clues about underlying cellular pathways that should eventually lead to new therapies...
  91. ncbi Genome-wide association study identifies five susceptibility loci for glioma
    Sanjay Shete
    Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Houston, Texas, USA
    Nat Genet 41:899-904. 2009
    ..3 (rs498872, PHLDB1; P = 1.07 x 10(-8)). These data show that common low-penetrance susceptibility alleles contribute to the risk of developing glioma and provide insight into disease causation of this primary brain tumor...
  92. pmc GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers
    Eric M Reiman
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA
    Neuron 54:713-20. 2007
    ..Our findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology...
  93. pmc Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
    Steven A McCarroll
    Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, USA
    Nat Genet 40:1107-12. 2008
    ..These results suggest that the CD association at IRGM arises from an alteration in IRGM regulation that affects the efficacy of autophagy and identify a common deletion polymorphism as a likely causal variant...
  94. ncbi Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
    Daniel F Gudbjartsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 41:342-7. 2009
    ..2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls)...
  95. pmc Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
    Taye H Hamza
    New York State Department of Health Wadsworth Center, Albany, New York, USA
    Nat Genet 42:781-5. 2010
    ..The genetic association with HLA supports the involvement of the immune system in Parkinson's disease and offers new targets for drug development...
  96. ncbi Bayesian inference of epistatic interactions in case-control studies
    Yu Zhang
    Department of Statistics, The Pennsylvania State University, Thomas Building 422A, University Park, Pennsylvania 16802, USA
    Nat Genet 39:1167-73. 2007
    ....
  97. ncbi Efficiency and power in genetic association studies
    Paul I W de Bakker
    Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, CPZN 6818, Boston, Massachusetts 02114 2790, USA
    Nat Genet 37:1217-23. 2005
    ..Power is robust to the completeness of the reference panel from which tags are selected. These findings have implications for prioritizing tag SNPs and interpreting association studies...
  98. pmc Pathway and network-based analysis of genome-wide association studies in multiple sclerosis
    Sergio E Baranzini
    Department of Neurology, School of Medicine, University of California San Francisco, 513 Parnassus Ave Room S 256, San Francisco, CA 94143 0435, USA
    Hum Mol Genet 18:2078-90. 2009
    ..In addition to the immunological pathways previously identified, we report here for the first time the potential involvement of neural pathways in MS susceptibility...
  99. pmc Identifying autism loci and genes by tracing recent shared ancestry
    Eric M Morrow
    Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Science 321:218-23. 2008
    ....

Research Grants72

  1. Mechanisms for Racial Disparity in Preterm Birth
    Jane Hitti; Fiscal Year: 2006
    ....
  2. Identification of Genetic and Epigenetic Alterations in Spondyloarthritis
    Tibor T Glant; Fiscal Year: 2013
    ....
  3. Brain Activation responses in adolescents with genetic predisposition to obesity
    Susan Carnell; Fiscal Year: 2011
    ..The results may lead to new drugs and interventions to improve eating behavior, and help establish unbiased indicators of obesity risk and prognosis for use in research and clinical settings. ..
  4. MOLECULAR BASIS OF INSULIN RESISTANCE
    Maureen J Charron; Fiscal Year: 2010
    ..Results of these studies may yield new information for setting guidelines for pregnant and lactating women that may protect offspring from enhanced susceptibility to these metabolic diseases. ..
  5. Hepcidin-based screening for infantile iron deficiency
    Mark D Fleming; Fiscal Year: 2010
    ....
  6. Analyzer for Monitoring Personal Environmental Exposure to Fluids and Materials
    MATTHEW CUSACK; Fiscal Year: 2010
    ..Other applications for this technology are expected to be part of the GEI, the National Children's Study (NCS), in workplace assessments of occupational exposure, hospitals, or other medical or research settings. ..
  7. Exome re-sequencing candidate loci for familial essential tremor
    Barry E Kosofsky; Fiscal Year: 2012
    ..Studying the untoward effects of mutant ET genes will increase our knowledge of ET and other movement disorders such as Parkinson disease. ..
  8. Effect of diet & commensal bacteria on diabetes outcome in NOD mouse
    Li Wen; Fiscal Year: 2010
    ..Although we use a diabetes model system, the impact of our study is beyond T1D and could potentially apply to allergy, asthma and possibly other diseases that affect by environments. ..
  9. Signaling Mechanisms in Alcohol Drinking Behaviors
    Subhash C Pandey; Fiscal Year: 2013
    ....
  10. Molecular Epidemiology of DNA Repair in Head and Neck Cancer
    Qingyi Wei; Fiscal Year: 2012
    ..The long- term goal of this study is to identify effective biomarkers that can be used to identify at-risk individuals who will be targeted for primary prevention and early detection of SCCHN in the general population. ..
  11. Genetic Susceptibility and Biomarkers of Platinum-related Toxicities
    Lois B Travis; Fiscal Year: 2013
    ..Our results will eventually permit identification of patients at high risk for long-term toxicity, and the development of preventive and interventional strategies. 1 ..
  12. Epigenetic downregulation of the antibody response and inhibition of autoimmunity
    Paolo Casali; Fiscal Year: 2013
    ....
  13. Arsenic Exposure, Genetic Determinants and Diabetes Risk in a Family Study
    Ana Navas-Acien; Fiscal Year: 2013
    ....
  14. GI Endotoxin as an Environmental Trigger in an alpha-Synuclein Transgenic Mouse
    Robert L Nussbaum; Fiscal Year: 2012
    ..By understanding the disease process, we can identify points at which interventions could slow or stop its progression. ..
  15. Dependency of O-3 Induced Lung Mucus Hypersecretion on NQ01
    W Michael Foster; Fiscal Year: 2010
    ....
  16. PROSPECTIVE STUDIES OF DIET AND CANCER IN MEN AND WOMEN
    Walter C Willett; Fiscal Year: 2010
    ..The findings will contribute importantly to the prevention and prognosis of major cancers of men and women. ..
  17. Genomic Enhancers at 8q24 and Prostate Cancer
    Gerhard A Coetzee; Fiscal Year: 2013
    ....
  18. KINETICS OF DRUG MACROMOLECULE COMPLEX FORMATION
    PALMER WILLIAM TAYLOR; Fiscal Year: 2013
    ....
  19. Oxidative stress and neurogenetic networks in Drosophila
    Robert R H Anholt; Fiscal Year: 2010
    ....
  20. Anxiety development in 5-HT1A autoreceptor knockout mice, interaction with stress
    Rene Hen; Fiscal Year: 2010
    ....
  21. Glucocorticoids, Stress and Blood Pressure Regulation
    Deborah A Scheuer; Fiscal Year: 2013
    ..The results of these experiments will increase our understanding of the mechanisms that link stress and cardiovascular disease. ..
  22. Intestinal Inflammation Induced by Pathogens
    Beth A McCormick; Fiscal Year: 2013
    ..typhimurium triggers and controls the directed movement of PMN across the epithelial surface so that novel targets for therapeutic intervention in such inflammatory bowel diseases can be identified. ..
  23. Genetics of Spontaneous Pelvic Organ Prolapse in the Mouse
    Jay E Reeder; Fiscal Year: 2010
    ..It is hoped that identification of the gene that causes prolapse in mice will lead to a better understanding of the developmental, environmental, and genetic origins of prolapse in humans. ..
  24. Metal Exposure and Children?s Preschool Neurodevelopment
    David C Bellinger; Fiscal Year: 2012
    ..The effects of exposures to combinations of metals, including lead, is also a major focus. This more closely mirrors "real world" exposures, which invariably involve a mixture of compounds rather than a single compound. ..
  25. Genetic Vulnerability to Alcohol Withdrawal and Genetically Correlated Behaviors
    Kari J Buck; Fiscal Year: 2012
    ....
  26. Epigenomic Regulation of Gene Expression in Diet Induced Obesity
    Donald K Scott; Fiscal Year: 2012
    ..This project has the potential to provide groundbreaking information concerning the epigenetics of obesity. ..
  27. The relative roled of sex and genes during development of systemic autoimmunity
    TRINE NORGAARD JORGENSEN; Fiscal Year: 2010
    ....
  28. Genetic Susceptibility Factors in Porphyria Cutanea Tarda (PCT)
    Karl Anderson; Fiscal Year: 2009
    ..This study and projects which follow will lead to a better understanding of PCT and also contribute to knowledge about how agents such as alcohol and hepatitis C interact with genetic factors in causing human liver diseases. ..
  29. Using a MALDI-TOF System for SNP Analysis
    Nadereh Jafari; Fiscal Year: 2010
    ....
  30. Genomic profiling of yeast resistance to AFB1, a P450-activated carcinogen
    MICHAEL THOMAS FASULLO; Fiscal Year: 2013
    ..The project will be a valuable training tool in systems and computational biology. ..
  31. DIETARY PATTERNS AND RISK OF CARDIOVASCULAR DISEASE
    Frank B Hu; Fiscal Year: 2013
    ....
  32. The role of neutrophil extracellular traps and NADPH oxidase in SLE pathogenesis
    ALLISON MARIE CAMPBELL; Fiscal Year: 2012
    ..very important, as it could explain the initiation of lupus, events that trigger exacerbations, and genetic predisposition to disease. A novel candidate source of autoantigen is a unique form of neutrophil cell death in which cells ..
  33. Metabolic flux in a model of reduced oxidative capacity
    CHARLES ROBERT EVANS; Fiscal Year: 2013
    ..The studies will also provide improved techniques for assessment of metabolic flux in mammalian tissue which will be of benefit to a wide range of future studies in both animals and humans. ..
  34. Innate Regulation and CD4+Th1/17 Immunity in TMEV-Induced Demyelination
    Stephen D Miller; Fiscal Year: 2013
    ....
  35. Polymorphism and mutation spectrum in minorities with non-small cell lung cancer
    David P Carbone; Fiscal Year: 2010
    ..The results should provide tremendous insight into the genomic factors which influence susceptibility, pathogenesis, drug sensitivity, and survival in African-Americans with non-small cell lung cancer. ..
  36. Methylmercury exposure, mercury metabolism genotypes, and risk of adult glioma
    Kathleen M Egan; Fiscal Year: 2013
    ..Based on a large, nearly completed case-control study, the proposed pilot investigation may provide new information on a potential environmental risk factor, mechanisms for glioma tumor development, and directions for future study. ..
  37. Functional characterization of ATP1A1 and DEspR variants associated with essentia
    Nelson Ruiz Opazo; Fiscal Year: 2010
    ....
  38. The Role of The Histone Epigenome in the Pathophysiology of Endometriosis
    MARICARMEN COLON; Fiscal Year: 2012
    ..Also, this information may enable the design of more effective treatments and diagnostic assays for this incurable disease. ..
  39. GENETIC SUSCEPTIBILITY TO LIPID-LOWERING DRUG-INDUCED MYOPATHIES
    GEORGIRENE VLADUTIU; Fiscal Year: 2012
    ..abstract_text> ..
  40. Ozone Cardiovascular Effects in Genetically Susceptible People
    MARK WALTER FRAMPTON; Fiscal Year: 2012
    ..Understanding the effects of ozone on the heart and circulation can help establish appropriate air pollution standards, and provide strategies to protect the most susceptible people. ..
  41. A Prospective Study of Diet and Prostate Cancer
    Edward Giovannucci; Fiscal Year: 2011
    ..abstract_text> ..
  42. Epidemiologic Study of Hepatocellular Carcinoma in the US
    Herbert Yu; Fiscal Year: 2013
    ....
  43. Role of Genetic Susceptibility in Therapy-related Subsequent Malignancies
    Smita Bhatia; Fiscal Year: 2013
    ....
  44. Mapping Expression Quantitative Trait Loci with Next Generation Sequencing in SLE
    Min Chen; Fiscal Year: 2013
    ....
  45. An Integrated Study of Mitochondrial Pathways in Colorectal Cancer
    Bharat Thyagarajan; Fiscal Year: 2013
    ....
  46. Genetic Susceptibility Factors in the Etiology of Neuroblastoma
    Andrew Olshan; Fiscal Year: 2012
    ..The determination of preventive factors for neuroblastoma is also broadly relevant as vitamins have been associated with a reduced risk of other childhood cancers. ..
  47. Antenatal Dietary Supplementation is a Risk Factor for Infant Atopy Through Epige
    DAVID ALBERT SCHWARTZ; Fiscal Year: 2010
    ..Our research team proposes to determine if such concerns about methyl donor supplementation are justified and pose a real threat in expectant mothers already at risk for transmitting an atopic genetic predisposition to their infants. ..
  48. Using Genetics For Early Phenotyping &Prevention of Hypertrophic Cardiomyopathy
    Christine E Seidman; Fiscal Year: 2013
    ..Early treatment can be targeted to at-risk, genetically susceptible individuals to offset the consequences of pathogenic mutations and prevent disease progression. ..
  49. Confirmatory Screening for Congenital Non-Syndromic Genetic Hearing Loss Using Ta
    Edwin W Naylor; Fiscal Year: 2013
    ....
  50. CHILDHOOD DIOXIN EXPOSURE AND ENERGY HOMEOSTASIS DYSREGULATION
    Jane S Burns; Fiscal Year: 2010
    ....
  51. Genotypes and Phenotypes of Apoptosis and Risk of Head and Neck Cancer
    Qingyi Wei; Fiscal Year: 2013
    ..The long-term goal of this study is to identify effective biomarkers that can be used to identify at-risk individuals in the general population who will be targeted for primary prevention and early detection of SCCHN. ..
  52. Do Genotype Patterns Predict Weight Loss Success for Low Carb vs. Low Fat Diets?
    Christopher D Gardner; Fiscal Year: 2013
    ....
  53. Genetic Susceptibility to PCB-induced Motor Dysfunction
    CHRISTINE PERDAN CURRAN; Fiscal Year: 2012
    ..The proposed research is designed to identify neural pathways affected by PCB exposure and humans at highest risk of PCB developmental neurotoxicity using a mouse model that mirrors known genetic variations in humans. ..
  54. Molecular Mechanisms of Albumin Trafficking in Podocytes
    Judith T Blaine; Fiscal Year: 2013
    ....
  55. Indicators of early neurodegeneration: gene-toxin interactions at the syanpse
    Felix E Schweizer; Fiscal Year: 2010
    ....
  56. Vascular Epigenome Dynamics in African-American Hypertensives
    Methode Bacanamwo; Fiscal Year: 2012
    ..It is anticipated that these studies will yield novel insights and new drug discovery paradigms for the treatment of hypertension. ..
  57. T1D:Investigating the Gut Microbiome, Urinary Proteome and Metabolome
    Ramana Madupu; Fiscal Year: 2011
    ..We propose to study the complex interplay of environmental, immunological and genetic factors to discover molecular signatures with a potential to advance clinical diagnosis and therapy at or before the onset of T1D. ..
  58. Sex Hormones and Cardiac Arrhythmia in Transgenic LQT2 Rabbits
    Gideon Koren; Fiscal Year: 2012
    ..abstract_text> ..
  59. Metabolic Biomarkers of Autism: Predictive Potential and Genetic Susceptibility
    SANDRA JILL JAMES; Fiscal Year: 2010
    ....
  60. The Role of Stress in a Genetically Predisposed Epilepsy Model
    NIKKI TAMARA SAWYER; Fiscal Year: 2013
    ..This proposal aims to investigate the relationship between a genetic predisposition to epilepsy and the stress response, with the goal of identifying new therapeutic targets for the treatment of epilepsy. ..
  61. Biological and Environmental modifiers of Vitamin D3 and Prostate Cancer Risk
    RICK ANTONIUS KITTLES; Fiscal Year: 2013
    ..More importantly, given that UVR and diet are general environmental exposures that can be easily modified, understanding their impact may have broad health implications. ..
  62. Genetic and Environmental Determinants of Food Allergy
    Corinne Keet; Fiscal Year: 2013
    ..The findings from this study may inform preventative strategies for food allergy. ..
  63. Gut flora metabolism of dietary phosphatidylcholine and cardiovascular disease
    Stanley L Hazen; Fiscal Year: 2013
    ....
  64. Characterization of Innate immune receptors
    Detlef Schuppan; Fiscal Year: 2009
    ....
  65. Cohort Study of Genetic Susceptibility to Cutaneous Malignant Melanoma
    Jiali Han; Fiscal Year: 2010
    ..This research will contribute to the scientific basis for identifying individuals at high risk for melanoma and providing individualized risk management strategies. ..
  66. GENETIC PREDISPOSITION TESTING IN COLORECTAL CANCER
    Deborah Schrag; Fiscal Year: 2003
    ..abstract_text> ..
  67. GENETIC SUSCEPTIBILITY TO HORMONAL CARCINOGENESIS
    ROLF PERSSON; Fiscal Year: 2000
    ..It gives prospects for better definition of individual susceptibility and thereby a possibility for selective advice and improved cancer prevention. ..
  68. The Molecular Pathogenesis of Health Disparities in Inf*
    Emmet Hirsch; Fiscal Year: 2005
    ..The large databases generated in this study will be valuable to any researcher interested in parturition and will be made accessible on the Internet. ..
  69. CELLULAR & MOLECULAR BASIS FOR BASAL CELL NEVUS SYNDROME
    HONNAVARA ANANTHASWAMY; Fiscal Year: 1992
    ..Studies addressing these questions may lead to the identification of some of the defects that are associated with the pathogenesis of skin cancer in BCNS patients...
  70. Analysis of Genetic Susceptibility to Anterior Uveitis
    TAMMY MARTIN; Fiscal Year: 2009
    ..Specific Aim 3: To identify specific candidate gene mutations by using SNP marker analysis, by comparative DNA sequencing and by denaturing HPLC analysis. ..
  71. Pathogenesis of mesothelioma
    Michele Carbone; Fiscal Year: 2010
    ....
  72. MAPPING GENES LINKED TO AUTOIMMUNE THYROID DISEASES
    Yaron Tomer; Fiscal Year: 2001
    ..The identification of a genetic marker for AITD will allow a better understanding and classification of the diseases. Thus rational treatments could be offered based on the mechanisms initiating the diseases. ..