首页|ExomeChip-based rare variant association study in restless legs syndrome

ExomeChip-based rare variant association study in restless legs syndrome

扫码查看
原文链接
  • NSTL
  • Elsevier
Restless legs syndrome (RLS) is a common sleep-related movement disorder in populations of European descent and disease risk is strongly influenced by genetic factors. Common variants have been assessed extensively in several genome-wide association studies, but the contribution of rarer genetic variation has not been investigated at this scale. We therefore genotyped a case-control set of 9246 individuals for mainly rare and low frequency exonic variants using the Illumina ExomeChip. However, standard single variant and gene-level association tests were negative. This does not preclude a role of rare variants in RLS, but is likely due to the small sample size and the limited selection of rare genetic variation captured on the array. Therefore, exome or whole genome sequencing should be performed rather than increasing the sample size of ExomeChip studies in order to identify rare risk variants for RLS. (C) 2022 Elsevier B.V. All rights reserved.

Restless legs syndromeRLSGenome-wide association studyRare variant association studyGENOME-WIDESEQUENCING DATADISEASETESTSLOCISET

Tilch, Erik、Schormair, Barbara、Zhao, Chen、Hoegl, Birgit、Stefani, Ambra、Trenkwalder, Claudia、Bachmann, Cornelius G.、Hornyak, Magdolna、Fietze, Ingo、Mueller-Nurasyid, Martina、Peters, Annette、Herms, Stefan、Noethen, Markus M.、Mueller-Myhsok, Bertram、Oexle, Konrad、Winkelmann, Juliane、Berger, Klaus

展开 >

Helmholtz Association,Helmholtz Zentrum Munchen

Dept Neurol,Med Univ Innsbruck

Univ Med Ctr,Georg August Univ Gottingen

Dept Neurol,Paracelsus Klin

Dept Neurol,Univ Ulm

Ctr Sleep Med,Charite Univ Med Berlin

Inst Genet Epidemiol,Helmholtz Zentrum Munchen

Inst Epidemiol,Helmholtz Zentrum Munchen

Dept Biomed,Univ Basel

Life & Brain Res Ctr,Univ Bonn

Max Planck Inst Psychiat

Inst Epidemiol & Social Med,Univ Munster

展开 >

2022

10.1016/j.sleep.2022.04.001

Sleep medicine

Sleep medicine

SCI
ISSN：1389-9457
年,卷(期)：2022.94
  • 28