A genome-wide association study identifies UTRN gene polymorphism for restless legs syndrome in a Korean population

Chul Hyun Cho, Ji Hye Choi, Seung Gul Kang, Ho Kyoung Yoon, Young Min Park, Joung Ho Moon, Ki Young Jung, Jin Kyu Han, Hong Bum Shin, Sshyun Ji Noh, Yong Seo Koo, Leen Kim, Hyun Goo Woo, Heon Jeong Lee

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


Objective Restless legs syndrome (RLS) is a highly heritable and common neurological sensorimotor disease disturbing sleep. The objective of study was to investigate significant gene for RLS by performing GWA and replication study in a Korean population. Methods We performed a GWA study for RLS symptom group (n=325) and non-RLS group (n=2,603) from the Korea Genome Epidemiology Study. We subsequently performed a replication study in RLS and normal controls (227 RLS and 229 controls) to confirm the present GWA study findings as well as previous GWA study results. Results In the initial GWA study of RLS, we observed an association of rs11645604 (OR=1.531, p=1.18×10-6) in MPHOSPH6 on chromosome 16q23.3, rs1918752 (OR=0.6582, p=1.93×10-6) and rs9390170 (OR=0.6778, p=7.67×10-6) in UTRN on chromosome 6q24. From the replication samples, we found rs9390170 in UTRN (p=0.036) and rs3923809 and rs9296249 in BTBD9 (p=0.045, p=0.046, respectively) were significantly associated with RLS. Moreover, we found the haplotype polymorphisms of rs9357271, rs3923809, and rs9296249 (overall p=5.69×10-18) in BTBD9 was associated with RLS. Conclusion From our sequential GWA and replication study, we could hypothesize rs9390170 polymorphism in UTRN is a novel genetic marker for susceptibility to RLS. Regarding with utrophin, which is encoded by UTRN, is preferentially expressed in the neuromuscular synapse and myotendinous junctions, we speculate that utrophin is involved in RLS, particularly related to the neuromuscular aspects.

Original languageEnglish
Pages (from-to)830-838
Number of pages9
JournalPsychiatry Investigation
Issue number6
Publication statusPublished - 2017 Nov

Bibliographical note

Publisher Copyright:
© 2017 Korean Neuropsychiatric Association.


  • Genome-wide association study
  • Replication study
  • Restless legs syndrome
  • UTRN
  • Utrophin

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry


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