Menu
GWAS Study

Large genome-wide association study identifies three novel risk variants for restless legs syndrome.

Didriksen M, Nawaz MS, Dowsett J et al.

33239738 PubMed ID
GWAS Study Type
591833 Participants
Scroll to explore
Chapter I

Publication Details

Comprehensive information about this research publication

Authors

DM
Didriksen M
NM
Nawaz MS
DJ
Dowsett J
BS
Bell S
EC
Erikstrup C
PO
Pedersen OB
SE
Sørensen E
JP
Jennum PJ
BK
Burgdorf KS
BB
Burchell B
BA
Butterworth AS
SN
Soranzo N
RD
Rye DB
TL
Trotti LM
SP
Saini P
SL
Stefansdottir L
MS
Magnusson SH
TG
Thorleifsson G
ST
Sigmundsson T
SA
Sigurdsson AP
VD
Van Den Hurk K
QF
Quee F
TM
Tanck MWT
OW
Ouwehand WH
RD
Roberts DJ
EE
Earley EJ
BM
Busch MP
MA
Mast AE
PG
Page GP
DJ
Danesh J
DA
Di Angelantonio E
SH
Stefansson H
UH
Ullum H
SK
Stefansson K
Chapter II

Abstract

Summary of the research findings

Restless legs syndrome (RLS) is a common neurological sensorimotor disorder often described as an unpleasant sensation associated with an urge to move the legs. Here we report findings from a meta-analysis of genome-wide association studies of RLS including 480,982 Caucasians (cases = 10,257) and a follow up sample of 24,977 (cases = 6,651). We confirm 19 of the 20 previously reported RLS sequence variants at 19 loci and report three novel RLS associations; rs112716420-G (OR = 1.25, P = 1.5 × 10-18), rs10068599-T (OR = 1.09, P = 6.9 × 10-10) and rs10769894-A (OR = 0.90, P = 9.4 × 10-14). At four of the 22 RLS loci, cis-eQTL analysis indicates a causal impact on gene expression. Through polygenic risk score for RLS we extended prior epidemiological findings implicating obesity, smoking and high alcohol intake as risk factors for RLS. To improve our understanding, with the purpose of seeking better treatments, more genetics studies yielding deeper insights into the disease biology are needed.

10,257 European ancestry cases, 470,725 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

591833
Total Participants
GWAS
Study Type
Yes
Replicated
up to 15,126 European ancestry cases, up to 95,725 European ancestry controls
Replication Participants
European
Ancestry
Denmark, Iceland, Netherlands, U.K., U.S., Canada
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

Important Disclaimer: This review has been performed semi-automatically and is provided for informational purposes only. While we strive for accuracy, this analysis may contain errors, omissions, or misinterpretations of the original research. DNA Genics disclaims all liability for any inaccuracies, errors, or consequences arising from the use of this information. Users should independently verify all information and consult original research publications before making any decisions based on this content. This analysis is not intended as a substitute for professional scientific review or medical advice.

Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.