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The article discusses the study which determines whether rheumatoid arthritis (RA) is a susceptible loci in Caucasian and Korean populations with the formulation of autoimmune disease-associated gene. Researchers evaluated the disease-associated nucleotide single-nucleotide polymorphism (SNP) to seek novel coding variants to disease in the area. The study found that genetic risk factors for RA are different in Caucasian and Korean patients in different ethnic groups of genetic risk.

The article presents a research on the difference of the chromosome 7q region association with rheumatoid arthritis (RA) in females in British and North American population. It shows that the single-nucleotide polymorphism (SNP) on chromosomes 7q has been reported to be sexually dimorphic marker for RA susceptibility in the British. In addition, the study sought to confirm to the association of rs11761231 with RA in females by geno-typing North American RA patients and healthy controls.

To identify rheumatoid arthritis risk loci in European populations, we conducted a meta-analysis of two published genome-wide association (GWA) studies totaling 3,393 cases and 12,462 controls. We genotyped 31 top-ranked SNPs not previously associated with rheumatoid arthritis in an independent replication of 3,929 autoantibody-positive rheumatoid arthritis cases and 5,807 matched controls from eight separate collections. We identified a common variant at the CD40 gene locus (rs4810485, P = 0.0032 replication, P = 8.2 × 10−9 overall, OR = 0.87). Along with other associations near TRAF1 (refs. 2,3) and TNFAIP3 (refs. 4,5), this implies a central role for the CD40 signaling pathway in rheumatoid arthritis pathogenesis. We also identified association at the CCL21 gene locus (rs2812378, P = 0.00097 replication, P = 2.8 × 10−7 overall), a gene involved in lymphocyte trafficking. Finally, we identified evidence of association at four additional gene loci: MMEL1-TNFRSF14 (rs3890745, P = 0.0035 replication, P = 1.1 × 10−7 overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 × 10−6 overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 × 10−6 overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 × 10−8 overall). [ABSTRACT FROM AUTHOR]