Cho Chul-Hyun, Kim Soojin, Geum Dongho, Lee Heon-Jeong
a Department of Psychiatry , Korea University College of Medicine , Seoul , South Korea.
b Department of Biomedical Sciences , Korea University College of Medicine , Seoul , South Korea.
Nord J Psychiatry. 2017 May;71(4):245-249. doi: 10.1080/08039488.2016.1268202. Epub 2017 Jan 12.
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.
The goal of the present study was to evaluate the association of ANK3 variants with BD in the Korean population.
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.
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; permutation p = 0) in a case-control haplotype analysis.
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.
双相情感障碍（BD）是一种主要的精神疾病，其特征为情绪发作交替出现，包括重度抑郁发作、轻躁狂发作和躁狂发作。先前关于BD的遗传学研究已报道了多个可能与BD相关的基因。在全基因组关联分析中，ANK3基因已被确定为一个可能的BD易感基因。
本研究的目的是评估ANK3基因变异与韩国人群中BD的关联性。
基于先前的研究结果，在ANK3基因中选择了两个单核苷酸多态性（SNP），即rs1938526和rs10994336。该研究纳入了287例BD患者和340名健康对照。对这两个ANK3变异进行了病例对照关联分析和病例对照单倍型分析。
病例对照关联分析未发现任一单SNP与BD有显著关联。然而，在病例对照单倍型分析中，rs1938526和rs10994336显示出显著关联（总体p = 3.6×10；置换p = 0）。
单倍型分析结果表明，ANK3变异rs1938526和rs10994336可能使韩国人群易患BD。关联分析揭示了韩国人和白种人群在ANK3参与BD发病机制程度上可能存在的遗传差异。
