ExomeChip-based rare variant association study in restless legs syndrome.

Case-Control Studies Genome-Wide Association Study Genotype Humans Restless Legs Syndrome / genetics
Genome-wide association study RLS Rare variant association study Restless legs syndrome

Journal

Sleep medicine
ISSN: 1878-5506
Titre abrégé: Sleep Med
Pays: Netherlands
ID NLM: 100898759

Informations de publication

Date de publication:
06 2022
Historique:
received: 09 02 2022
revised: 17 03 2022
accepted: 04 04 2022
pubmed: 1 5 2022
medline: 26 5 2022
entrez: 30 4 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.sleep.2022.04.001 PMID: 35489115
pubmed: 35489115
pii: S1389-9457(22)00123-X
doi: 10.1016/j.sleep.2022.04.001
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

26-30

Informations de copyright

Copyright © 2022 Elsevier B.V. All rights reserved.

Auteurs

Erik Tilch (E)

Institute of Neurogenomics, Helmholtz Zentrum München - German Research Centre for Environmental Health, Neuherberg, Germany; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.

Barbara Schormair (B)

Institute of Neurogenomics, Helmholtz Zentrum München - German Research Centre for Environmental Health, Neuherberg, Germany; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany. Electronic address: barbara.schormair@helmholtz-muenchen.de.

Chen Zhao (C)

Institute of Neurogenomics, Helmholtz Zentrum München - German Research Centre for Environmental Health, Neuherberg, Germany.

Birgit Högl (B)

Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Ambra Stefani (A)

Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Klaus Berger (K)

Institute of Epidemiology and Social Medicine, University of Münster, Münster, Germany.

Claudia Trenkwalder (C)

Clinic for Neurosurgery, University Medical Centre, Georg August University Göttingen, Göttingen, Germany; Paracelsus-Elena Hospital, Center of Parkinsonism and Movement Disorders, Kassel, Germany.

Cornelius G Bachmann (CG)

Department of Neurology, Paracelsus Klinik, Osnabrueck, Germany.

Magdolna Hornyak (M)

Department of Neurology, University of Ulm, Ulm, Germany; Neuropsychiatry Centre Erding/München, Erding, Germany.

Ingo Fietze (I)

Charité - Universitätsmedizin Berlin, Center of Sleep Medicine, Berlin, Germany.

Martina Müller-Nurasyid (M)

Institute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; The Institute for Medical Information Processing, Biometry, and Epidemiology (IBE), Faculty of Medicine, Ludwig-Maximilians-Universität (LMU) Munich, Munich, Germany; Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center, Johannes Gutenberg University, Mainz, Germany; Department of Internal Medicine I (Cardiology), Hospital of the Ludwig-Maximilians-University (LMU) Munich, Munich, Germany.

Annette Peters (A)

Institute of Epidemiology, Helmholtz Zentrum München - German Research Centre for Environmental Health, Neuherberg, Germany; German Centre for Cardiovascular Research (DZHK), Partner Site Munich Heart Alliance, Munich, Germany; German Centre for Diabetes Research (DZD), Neuherberg, Germany.

Stefan Herms (S)

Human Genomics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland; Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland; Department of Genomics, Life & Brain Research Center, University of Bonn, Bonn, Germany.

Markus M Nöthen (MM)

Department of Genomics, Life & Brain Research Center, University of Bonn, Bonn, Germany; Institute of Human Genetics, University of Bonn School of Medicine & University Hospital Bonn, Bonn, Germany.

Bertram Müller-Myhsok (B)

Max Planck Institute of Psychiatry, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Institute of Translational Medicine, University of Liverpool, Liverpool, UK.

Konrad Oexle (K)

Institute of Neurogenomics, Helmholtz Zentrum München - German Research Centre for Environmental Health, Neuherberg, Germany.

Juliane Winkelmann (J)

Institute of Neurogenomics, Helmholtz Zentrum München - German Research Centre for Environmental Health, Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany. Electronic address: juliane.winkelmann@tum.de.

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Classifications MeSH

questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › ExomeChip-based rare variant association study...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › ExomeChip-based rare variant association study...
questionsmedicales.fr › Phénomènes génétiques › Génotype › ExomeChip-based rare variant association study...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › ExomeChip-based rare variant association study...
questionsmedicales.fr › Troubles mentaux › Troubles de la veille et du sommeil › Parasomnies › Syndrome des jambes sans repos › ExomeChip-based rare variant association study...