Large genome-wide association study identifies three novel risk variants for restless legs syndrome
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Large genome-wide association study identifies three novel risk variants for restless legs syndrome. / Didriksen, Maria; Nawaz, Muhammad Sulaman; Dowsett, Joseph; Bell, Steven; Erikstrup, Christian; Pedersen, Ole B.; Sørensen, Erik; Jennum, Poul J.; Burgdorf, Kristoffer S.; Burchell, Brendan; Butterworth, Adam S.; Soranzo, Nicole; Rye, David B.; Trotti, Lynn Marie; Saini, Prabhjyot; Stefansdottir, Lilja; Magnusson, Sigurdur H.; Thorleifsson, Gudmar; Sigmundsson, Thordur; Sigurdsson, Albert P.; Van Den Hurk, Katja; Quee, Franke; Tanck, Michael W.T.; Ouwehand, Willem H.; Roberts, David J.; Earley, Eric J.; Busch, Michael P.; Mast, Alan E.; Page, Grier P.; Danesh, John; Di Angelantonio, Emanuele; Stefansson, Hreinn; Ullum, Henrik; Stefansson, Kari.
In: Communications Biology , Vol. 3, No. 1, 703, 2020.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Large genome-wide association study identifies three novel risk variants for restless legs syndrome
AU - Didriksen, Maria
AU - Nawaz, Muhammad Sulaman
AU - Dowsett, Joseph
AU - Bell, Steven
AU - Erikstrup, Christian
AU - Pedersen, Ole B.
AU - Sørensen, Erik
AU - Jennum, Poul J.
AU - Burgdorf, Kristoffer S.
AU - Burchell, Brendan
AU - Butterworth, Adam S.
AU - Soranzo, Nicole
AU - Rye, David B.
AU - Trotti, Lynn Marie
AU - Saini, Prabhjyot
AU - Stefansdottir, Lilja
AU - Magnusson, Sigurdur H.
AU - Thorleifsson, Gudmar
AU - Sigmundsson, Thordur
AU - Sigurdsson, Albert P.
AU - Van Den Hurk, Katja
AU - Quee, Franke
AU - Tanck, Michael W.T.
AU - Ouwehand, Willem H.
AU - Roberts, David J.
AU - Earley, Eric J.
AU - Busch, Michael P.
AU - Mast, Alan E.
AU - Page, Grier P.
AU - Danesh, John
AU - Di Angelantonio, Emanuele
AU - Stefansson, Hreinn
AU - Ullum, Henrik
AU - Stefansson, Kari
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
U2 - 10.1038/s42003-020-01430-1
DO - 10.1038/s42003-020-01430-1
M3 - Journal article
C2 - 33239738
AN - SCOPUS:85096540783
VL - 3
JO - Communications Biology
JF - Communications Biology
SN - 2399-3642
IS - 1
M1 - 703
ER -
ID: 261164091