Large genome-wide association study identifies three novel risk variants for restless legs syndrome.

ABSTRACT: Restless legs syndrome (RLS) is a common neurological sensorimotor disorder often described as an unpleasant sensation associated with an urge to move the legs. Here we report findings from a meta-analysis of genome-wide association studies of RLS including 480,982 Caucasians (cases = 10,257) and a follow up sample of 24,977 (cases = 6,651). We confirm 19 of the 20 previously reported RLS sequence variants at 19 loci and report three novel RLS associations; rs112716420-G (OR = 1.25, P = 1.5 × 10^-18), rs10068599-T (OR = 1.09, P = 6.9 × 10^-10) and rs10769894-A (OR = 0.90, P = 9.4 × 10^-14). At four of the 22 RLS loci, cis-eQTL analysis indicates a causal impact on gene expression. Through polygenic risk score for RLS we extended prior epidemiological findings

SUBMITTER: Didriksen M 

PROVIDER: S-EPMC7689502 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature