Multi-Ancestry Analysis of 351,498 People Finds 29 Novel Rheumatoid Arthritis Loci and 203 Effector Genes
Nature Communications on November 14 published a multi-ancestry genetic study of rheumatoid arthritis (RA). The team integrated published and new datasets in genome-wide association meta-analyses of 351,498 individuals, comprising 39,600 RA cases and 311,898 controls.
The analysis identified 29 novel RA susceptibility loci and systematically classified association signals as population-specific, population-dominant, or population-shared between East Asian and European populations.
Bayesian fine-mapping and functional annotation prioritized 67 putative causal variants with posterior inclusion probability above 0.1 in the novel loci, including an SLC27A6 missense variant (rs137898880) and a STIM1 3′ UTR variant (rs3750996).
A gene-prioritization framework combining genetic and biological evidence identified 203 high-confidence effector genes, 16 of which reside in novel loci, including IFI16, AIM2, RGS1, ITPKB, CD80, RHOH, NFKB1, SIK3 and CCND2. The paper, by Kwon, Bang, Ha and colleagues, is titled 'Multi-ancestry genetic analysis reveals 29 novel rheumatoid arthritis loci, effector genes and drug repurposing opportunities'.
Source: Nature Communications
Published by GSM · USA (original Chinese edition)
Photo: 图：类风湿关节炎患者的双手（资料图）。来源：Wikimedia Commons，CC0。 / Photo: The hands of a rheumatoid arthritis patient (file photo). Source: Wikimedia Commons, CC0.
