Defining the Role of the MHC in Autoimmunity: A Review and Pooled Analysis

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Defining the Role of the MHC in Autoimmunity: A Review and Pooled Analysis

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dc.contributor.author Fernando, Michelle M. A.
dc.contributor.author Stevens, Christine R.
dc.contributor.author Walsh, Emily C.
dc.contributor.author De Jager, Philip Lawrence
dc.contributor.author Goyette, Philippe
dc.contributor.author Plenge, Robert M.
dc.contributor.author Vyse, Timothy J.
dc.contributor.author Rioux, John D.
dc.date.accessioned 2012-02-07T15:27:31Z
dc.date.issued 2008
dc.identifier.citation Fernando, Michelle M. A., Christine R. Stevens, Emily C. Walsh, Philip L. De Jager, Philippe Goyette, Robert M. Plenge, Timothy J. Vyse, and John D. Rioux. 2008. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genetics 4(4): e1000024. en_US
dc.identifier.issn 1553-7390 en_US
dc.identifier.uri http://nrs.harvard.edu/urn-3:HUL.InstRepos:8139238
dc.description.abstract The major histocompatibility complex (MHC) is one of the most extensively studied regions in the human genome because of the association of variants at this locus with autoimmune, infectious, and inflammatory diseases. However, identification of causal variants within the MHC for the majority of these diseases has remained difficult due to the great variability and extensive linkage disequilibrium (LD) that exists among alleles throughout this locus, coupled with inadequate study design whereby only a limited subset of about 20 from a total of approximately 250 genes have been studied in small cohorts of predominantly European origin. We have performed a review and pooled analysis of the past 30 years of research on the role of the MHC in six genetically complex disease traits – multiple sclerosis (MS), type 1 diabetes (T1D), systemic lupus erythematosus (SLE), ulcerative colitis (UC), Crohn's disease (CD), and rheumatoid arthritis (RA) – in order to consolidate and evaluate the current literature regarding MHC genetics in these common autoimmune and inflammatory diseases. We corroborate established MHC disease associations and identify predisposing variants that previously have not been appreciated. Furthermore, we find a number of interesting commonalities and differences across diseases that implicate both general and disease-specific pathogenetic mechanisms in autoimmunity. en_US
dc.language.iso en_US en_US
dc.publisher Public Library of Science en_US
dc.relation.isversionof doi:10.1371/journal.pgen.1000024 en_US
dc.relation.hasversion http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2291482/pdf/ en_US
dash.license LAA
dc.subject genetics and genomics en_US
dc.subject complex traits en_US
dc.title Defining the Role of the MHC in Autoimmunity: A Review and Pooled Analysis en_US
dc.type Journal Article en_US
dc.description.version Version of Record en_US
dc.relation.journal PLoS Genetics en_US
dash.depositing.author De Jager, Philip Lawrence
dc.date.available 2012-02-07T15:27:31Z
dash.affiliation.other HMS^Neurology-Brigham and Women's Hospital en_US
dash.affiliation.other HMS^Medicine-Brigham and Women's Hospital en_US

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