Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. Rheumatoid arthritis association at 6q23. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. TRAF1- C5 as a risk locus for rheumatoid arthritis-a genomewide study.
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. A candidate gene approach identifies the TRAF1/ C5 region as a risk factor for rheumatoid arthritis. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Epidemiology and genetics of rheumatoid arthritis. 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. These new associations bring the total number of confirmed rheumatoid arthritis risk loci to 31 among individuals of European ancestry. We also refined associations at two established rheumatoid arthritis risk loci ( IL2RA and CCL21) and confirmed the association at AFF3.
The associated SNPs are near genes of known immune function, including IL6ST, SPRED2, RBPJ, CCR6, IRF5 and PXK.
Of 34 SNPs selected for replication, 7 new rheumatoid arthritis risk alleles were identified at genome-wide significance ( P < 5 × 10 −8) in an analysis of all 41,282 samples. To identify new genetic risk factors for rheumatoid arthritis, we conducted a genome-wide association study meta-analysis of 5,539 autoantibody-positive individuals with rheumatoid arthritis (cases) and 20,169 controls of European descent, followed by replication in an independent set of 6,768 rheumatoid arthritis cases and 8,806 controls. Nature Genetics volume 42, pages 508–514 ( 2010) Cite this article Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
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