Association analysis of ANK3 variants with bipolar disorder in the Korean population

Chul Hyun Cho, Soojin Kim, Dongho Geum, Heon Jeong Lee

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Background: Bipolar disorder (BD) is a major psychiatric disorder characterized by alternating mood episodes, including major depressive, hypomanic, and manic episodes. Previous genetic studies of BD have reported several genes as potentially associated with BD. The ANK3 gene has been identified as a possible BD susceptibility gene in genome-wide association analyses. Aims: The goal of the present study was to evaluate the association of ANK3 variants with BD in the Korean population. Methods: Based on previous results, two single nucleotide polymorphisms (SNPs), rs1938526 and rs10994336, were selected in the ANK3 gene. The study included 287 BD patients and 340 healthy controls. Case-control association and case-control haplotype analyses of the two ANK3 variants were performed. Results: No significant association was found of either single SNP with BD by case-control association analysis. However, rs1938526 and rs10994336 showed a significant association (overall p = 3.6 × 10−11; permutation p = 0) in a case-control haplotype analysis. Conclusions: The haplotype analysis results suggest that ANK3 variants rs1938526 and rs10994336 may confer susceptibility for BD in the Korean population. Association analysis revealed a probable genetic difference between Korean and Caucasian populations in the degree of ANK3 involvement in BD pathogenesis.

Original languageEnglish
Pages (from-to)245-249
Number of pages5
JournalNordic Journal of Psychiatry
Issue number4
Publication statusPublished - 2017 May 19

Bibliographical note

Funding Information:
This study was supported by the Korea Health 21 R&D Project funded by the National Research Foundation of Korea (2012M3A9C7050135) and the Korean Health Technology R&D Project, Ministry of Health And Welfare, Republic of Korea [HI14C1731].

Publisher Copyright:
© 2017 The Nordic Psychiatric Association.


  • ANK3
  • Bipolar disorder
  • haplotype analysis
  • polymorphism

ASJC Scopus subject areas

  • Psychiatry and Mental health


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