Schormair Barbara
Institute of Neurogenomics, Computational Health Department, Helmholtz Zentrum München - German Research Center for Environmental Health (GmbH), Ingolstaedter Landstrasse 1, Neuherberg 85764, Germany; Institute of Human Genetics, TUM School of Medicine and Health, Technical University Munich, Munich, Germany.
Sleep Med Clin. 2025 Jun;20(2):193-202. doi: 10.1016/j.jsmc.2025.02.008. Epub 2025 Mar 19.
Genome-wide association studies (GWAS) of common and low-frequency variants have discovered 164 genetic risk loci for restless legs syndrome (RLS) in adult populations of European ancestry. Sex-specific GWAS meta-analyses revealed largely overlapping genetic risk profiles for women and men and are in line with a nongenetic risk factor driving the higher prevalence seen in women. Genetic investigations of pediatric RLS are limited, but the likely inclusion of early-onset cases in GWAS of adult populations and the similar phenotypic presentation of both forms suggest that genetic risk variants identified in adult populations transfer to pediatric RLS.
针对常见和低频变异的全基因组关联研究（GWAS）在欧洲血统的成年人群中发现了164个不宁腿综合征（RLS）的遗传风险位点。性别特异性GWAS荟萃分析显示，女性和男性的遗传风险概况在很大程度上重叠，这与一种非遗传风险因素相符，该因素导致女性中较高的患病率。儿科RLS的遗传学研究有限，但成年人群的GWAS中可能纳入了早发病例，且两种形式的表型表现相似，这表明在成年人群中鉴定出的遗传风险变异可转移至儿科RLS。
