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Edelson, J.L.* ; Schneider, L.D.* ; Amar, D.* ; Brink-Kjaer, A.* ; Cederberg, K.L.* ; Kutalik, Z.* ; Hagen, E.W.* ; Peppard, P.E.* ; Tempaku, P.F.* ; Tufik, S.* ; Evans, D.S.* ; Stone, K.* ; Tranah, G.* ; Cade, B.* ; Redline, S.* ; Haba-Rubio, J.* ; Heinzer, R.* ; Marques-Vidal, P.* ; Vollenweider, P.* ; Winkelmann, J. ; Zou, J.* ; Mignot, E.*

The genetic etiology of periodic leg movement in sleep.

Sleep 46:zsac121 (2022)

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STUDY OBJECTIVES: Periodic Limb Movement in Sleep is a common sleep phenotype characterized by repetitive leg movements that occur during or before sleep. We conducted a Genome-Wide Association Study (GWAS) of periodic limb movements in sleep (PLMS) using a joint analysis (i.e., discovery, replication, and joint meta-analysis) of 4 cohorts (MrOS, the Wisconsin Sleep Cohort Study, HypnoLaus, and MESA), comprised of 6,843 total subjects.. METHODS: The MrOS study and Wisconsin Sleep Cohort Study (N=1,745 cases) were used for discovery. Replication in the HypnoLaus and MESA cohorts (1,002 cases) preceded joint meta-analysis. We also performed LD score regression, estimated heritability, and computed genetic correlations between potentially associated traits such as restless leg syndrome (RLS) and insomnia. The causality and direction of the relationships between PLMS and RLS was evaluated using mendelian randomization. RESULTS: We found 2 independent loci were significantly associated with PLMS: rs113851554 (p = 3.51 x 10 -12, beta=0.486), a SNP located in a putative regulatory element of intron eight of MEIS1 (2p14); and rs9369062 (p = 3.06 x10 -22, beta=0.2093), a SNP located in the intron region of BTBD9 (6p12); both of which were also lead signals in RLS GWAS. PLMS is genetically correlated with insomnia, risk of stroke, and RLS, but not with iron deficiency. Pleiotropy adjusted Mendelian randomization analysis identified a causal effect of RLS on PLMS. CONCLUSIONS: Because PLMS is more common than RLS, PLMS may have multiple causes and additional studies are needed to further validate these findings.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Genome Wide Association Study ; Mendelian Randomization ; Periodic Leg Movement ; Restless Leg Syndrome; Restless-legs-syndrome; Genome-wide Association; Mendelian Randomization; Osteoporotic Fractures; Cardiovascular-disease; Eeg Arousals; Prevalence; Wakefulness; Risk; Antidepressants

ISSN (print) / ISBN 0161-8105

e-ISSN 1550-9109

Journal Sleep

Quellenangaben Volume: 46, Issue: 4, Article Number: zsac121

Publisher American Academy of Sleep Medicine and the Sleep Research Society

Publishing Place Journals Dept, 2001 Evans Rd, Cary, Nc 27513 Usa

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)

Grants National Heart, Lung, and Blood Institute (NHLBI)
NIH Roadmap for Medical Research
National Center for Advancing Translational Sciences (NCATS)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institute on Aging (NIA)
National Institutes of Health

Vaud Pulmonary League (Ligue Pulmonaire Vaudoise)
Leenaards Foundation
Swiss National Science Foundation
Faculty of Biology and Medicine of Lausanne
MESA
NHLBI
GlaxoSmithKline