Molecular Genetics of HLA and Disease View Homepage


Ontology type: schema:MonetaryGrant     


Grant Info

YEARS

2005-2011

FUNDING AMOUNT

10074470 USD

ABSTRACT

DESCRIPTION (provided by applicant): The goal of this application is to identify and characterize the complete repertoire of genes encoded in the MHC region that predispose and/or modulate the expression of autoimmune disease. Following the recent NINDS-sponsored workshop on MHC Genetics in Autoimmune Diseases and the subsequent announcement of an RFA to extend interdisciplinary science in this area, we created a Consortium, named The International MHC and Autoimmunity Genetics Network (IMAGEN) to tackle this problem in a meaningful and decisive manner. The IMAGEN investigators represent a large, diverse, and broad-based collaborative team of scientists at eight academic centers with synergistic skills;demonstrated expertise in MHC genetics and biology;clinical expertise in identifying endophenotypes;history of mutual productive collaborations;and experience in large scale genotyping and state-of-the-art analytical approaches. The basic structure of this collaborative project proposes a common base screen with a panel of more than1500 highly informative SNPs and replication for all diseases. Biologically relevant clinical endpoints will be incorporated into the analysis to assess the role of HLA variants in progression. Specific aim 3 for each project will address disease-specific questions. The primary screen will allow us to: 1) map the association signal(s) across the entire MHC to identify regions of the maximal signal;2) identify extended MHC haplotypes carrying the strongest association signals;3) identify recombinant chromosomes that maximally delimit the association;4) make testable hypotheses as to whether different autoimmune diseases are influenced by a single association with a particular locus, or a single association with an extended haplotype or multiple, independent associations across the MHC. The focus is on Multiple Sclerosis, Rheumatoid Arthritis, IgA Deficiency, Common Variable Immunodeficiency, Myasthenia Gravis, Systemic Lupus Erythematosus and Ulcerative Colitis. We believe that the clinical dataset assembled for this project is unmatched anywhere in the world. An Administrative Core at UCSF will coordinate activities and interactions for the overall project. A second Core at the Broad Institute will be responsible for generation of genotypes, data QC, storage, and interaction with BISC. More... »

URL

http://projectreporter.nih.gov/project_info_description.cfm?aid=7589855

Related SciGraph Publications

  • 2018-05-22. Significant variation between SNP-based HLA imputations in diverse populations: the last mile is the hardest in THE PHARMACOGENOMICS JOURNAL
  • 2016-11. Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency in NATURE GENETICS
  • 2015-02. High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis in NATURE GENETICS
  • 2014-06. MHC associations with clinical and autoantibody manifestations in European SLE in GENES & IMMUNITY
  • 2012. Analytical Methods for Disease Association Studies with Immunogenetic Data in IMMUNOGENETICS
  • 2012. Analytical Methods for Immunogenetic Population Data in IMMUNOGENETICS
  • 2012. Standard Methods for the Management of Immunogenetic Data in IMMUNOGENETICS
  • 2011-12. MHC region and risk of systemic lupus erythematosus in African American women in HUMAN GENETICS
  • 2011-11. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease in NATURE GENETICS
  • 2011-10. SNP-based analysis of the HLA locus in Japanese multiple sclerosis patients in GENES & IMMUNITY
  • 2010-12. Optimus Primer: A PCR enrichment primer design program for next-generation sequencing of human exonic regions in BMC RESEARCH NOTES
  • 2010-12. The CD45 77C/G allele is not associated with myasthenia gravis - a reassessment of the potential role of CD45 in autoimmunity in BMC RESEARCH NOTES
  • 2010-09. Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency in NATURE GENETICS
  • 2010-07. Opposing effects of the HLA-DRB1*0301-DQB1*0201 haplotype on the risk for multiple sclerosis in diverse Arab populations in Israel in GENES & IMMUNITY
  • 2010-04. Genome-wide association identifies multiple ulcerative colitis susceptibility loci in NATURE GENETICS
  • 2010-01. IgA Deficiency and the MHC: Assessment of Relative Risk and Microheterogeneity Within the HLA A1 B8, DR3 (8.1) Haplotype in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2009-01. The expanding genetic overlap between multiple sclerosis and type I diabetes in GENES & IMMUNITY
  • 2009-01. Common variants in the NLRP3 region contribute to Crohn's disease susceptibility in NATURE GENETICS
  • 2008-08. Genome-wide association studies: a new window into immune-mediated diseases in NATURE REVIEWS IMMUNOLOGY
  • 2008-01. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus in NATURE GENETICS
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