rs3093023

This extended UK genome-wide association study identified a novel rheumatoid arthritis susceptibility locus at 22q12 (rs1043099, P = 6.9 × 10⁻⁹, OR = 0.84) in 3,034 cases and 5,271 controls, and confirmed 16 previously known RA loci, strengthening evidence for genetic contributors to RA in the UK population.

This meta-analysis of 2,411 systemic sclerosis (SSc) patients and 7,084 healthy controls from three European populations (France, Italy, Germany) identifies CCR6 as a new susceptibility locus for anti-topoisomerase positive SSc. The rs3093023 SNP in CCR6 shows significant association with SSc ATA+ patients (OR=1.27, p=6.6×10⁻⁵ in combined analysis; OR=1.32, p=4.1×10⁻⁶ for rs10946216). The study confirms sharing of autoimmune risk alleles between SSc and rheumatoid arthritis and suggests a role for the IL17 pathway in SSc pathogenesis.

This study examined 27 previously identified rheumatoid arthritis (RA) risk alleles in 556 autoantibody-positive African-American RA cases and 791 controls. Twenty-four of 27 SNPs showed consistent odds ratios between African-Americans and Europeans; three SNPs (CCR6 rs3093023, TAGAP rs394581, TNFAIP3 rs6920220) showed opposite directions of effect. A genetic risk score analysis indicated that African-American cases were significantly enriched for European RA risk alleles (p=0.00005), suggesting that RA genetic risk factors are largely shared across ancestry groups.