{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Raychaudhuri S"],"funding":["Medical Research Council","NIAMS NIH HHS","Wellcome Trust","NIGMS NIH HHS"],"pagination":["291-6"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3288335"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["44(3)"],"pubmed_abstract":["The genetic association of the major histocompatibility complex (MHC) to rheumatoid arthritis risk has commonly been attributed to alleles in HLA-DRB1. However, debate persists about the identity of the causal variants in HLA-DRB1 and the presence of independent effects elsewhere in the MHC. Using existing genome-wide SNP data in 5,018 individuals with seropositive rheumatoid arthritis (cases) and 14,974 unaffected controls, we imputed and tested classical alleles and amino acid polymorphisms in HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1 and HLA-DRB1, as well as 3,117 SNPs across the MHC. Conditional and haplotype analyses identified that three amino acid positions (11, 71 and 74) in HLA-DRβ1 and single-amino-acid polymorphisms in HLA-B (at position 9) and HLA-DPβ1 (at pos"],"journal":["Nature genetics"],"pubmed_title":["Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis."],"pmcid":["PMC3288335"],"funding_grant_id":["R01-AR44422","R01-AR057108","U01 GM092691","K08 AR055688","R01 AR057108","G1001799","U01-GM092691","R01 AR056768","R01 AR044422","K08AR055688"],"pubmed_authors":["Sandor C","Gregersen PK","Padyukov L","Freudenberg J","Raychaudhuri S","Bae SC","Lee HS","Klareskog L","Worthington J","de Bakker PI","Jia X","Siminovitch KA","Stahl EA","Plenge RM","Alfredsson L"],"additional_accession":[]},"is_claimable":false,"name":"Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis.","description":"The genetic association of the major histocompatibility complex (MHC) to rheumatoid arthritis risk has commonly been attributed to alleles in HLA-DRB1. However, debate persists about the identity of the causal variants in HLA-DRB1 and the presence of independent effects elsewhere in the MHC. Using existing genome-wide SNP data in 5,018 individuals with seropositive rheumatoid arthritis (cases) and 14,974 unaffected controls, we imputed and tested classical alleles and amino acid polymorphisms in HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1 and HLA-DRB1, as well as 3,117 SNPs across the MHC. Conditional and haplotype analyses identified that three amino acid positions (11, 71 and 74) in HLA-DRβ1 and single-amino-acid polymorphisms in HLA-B (at position 9) and HLA-DPβ1 (at pos","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Jan","modification":"2026-05-03T06:21:12.139Z","creation":"2026-04-07T18:54:33.405Z"},"accession":"S-EPMC3288335","cross_references":{"pubmed":["22286218"],"doi":["10.1038/ng.1076"]}}