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GWAS Study

Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.

Jones SE, van Hees VT, Mazzotti DR et al.

30952852 PubMed ID
GWAS Study Type
91268 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

JS
Jones SE
VH
van Hees VT
MD
Mazzotti DR
MP
Marques-Vidal P
SS
Sabia S
VD
van der Spek A
DH
Dashti HS
EJ
Engmann J
KD
Kocevska D
TJ
Tyrrell J
BR
Beaumont RN
HM
Hillsdon M
RK
Ruth KS
TM
Tuke MA
YH
Yaghootkar H
SS
Sharp SA
JY
Ji Y
HJ
Harrison JW
FR
Freathy RM
MA
Murray A
LA
Luik AI
AN
Amin N
LJ
Lane JM
SR
Saxena R
RM
Rutter MK
TH
Tiemeier H
KZ
Kutalik Z
KM
Kumari M
FT
Frayling TM
WM
Weedon MN
GP
Gehrman PR
WA
Wood AR
Chapter II

Abstract

Summary of the research findings

Sleep is an essential human function but its regulation is poorly understood. Using accelerometer data from 85,670 UK Biobank participants, we perform a genome-wide association study of 8 derived sleep traits representing sleep quality, quantity and timing, and validate our findings in 5,819 individuals. We identify 47 genetic associations at P < 5 × 10-8, of which 20 reach a stricter threshold of P < 8 × 10-10. These include 26 novel associations with measures of sleep quality and 10 with nocturnal sleep duration. The majority of identified variants associate with a single sleep trait, except for variants previously associated with restless legs syndrome. For sleep duration we identify a missense variant (p.Tyr727Cys) in PDE11A as the likely causal variant. As a group, sleep quality loci are enriched for serotonin processing genes. Although accelerometer-derived measures of sleep are imperfect and may be affected by restless legs syndrome, these findings provide new biological insights into sleep compared to previous efforts based on self-report sleep measures.

85,449 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

91268
Total Participants
GWAS
Study Type
Yes
Replicated
5,819 European ancestry individuals
Replication Participants
European
Ancestry
U.K.
Recruitment Country
Chapter IV

AI-Generated Summary

AI-generated by DNAGENICS

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