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

AI Article Synopsis

  • - Restless legs syndrome (RLS) is a common neurological disorder characterized by uncomfortable sensations and a strong urge to move the legs; this summary discusses a large study on its genetic factors.
  • - A meta-analysis of genome-wide studies involved nearly 481,000 Caucasian participants, confirming 19 known genetic variants linked to RLS and identifying three new variants.
  • - The research also found connections between RLS and lifestyle factors like obesity, smoking, and high alcohol consumption, emphasizing the need for more genetic research to improve understanding and treatment options for RLS.

Article 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), rs10068599-T (OR = 1.09, P = 6.9 × 10) and rs10769894-A (OR = 0.90, P = 9.4 × 10). 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 implicating obesity, smoking and high alcohol intake as risk factors for RLS. To improve our understanding, with the purpose of seeking better treatments, more genetics studies yielding deeper insights into the disease biology are needed.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7689502PMC
http://dx.doi.org/10.1038/s42003-020-01430-1DOI Listing

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