Lee Kyu Young, Ahn Yong Min, Kim Se Hyun, Kang Hee-Gyoo, Joo Eun-Jeong
a Department of Neuropsychiatry , Eulji University School of Medicine , Daegeon , Korea.
b Department of Psychiatry, Nowon Eulji Meical Center , Eulji University , Seoul , Korea.
Nord J Psychiatry. 2018 Nov;72(8):599-604. doi: 10.1080/08039488.2018.1509125. Epub 2018 Nov 16.
A circadian rhythm disturbance is one of the essential components of the phenotype of bipolar disorder. It has been reported that casein kinase 1 epsilon (CSNK1E), a member of the clock gene family, is associated with psychiatric phenotypes.
We performed a genetic association study to determine the genetic role of CSNK1E in bipolar disorder and circadian rhythm disturbances in the Korean population.
The present study included 215 patients with bipolar disorder and 773 controls. Circadian characteristics were measured by the Korean version of the Composite Scale of Morningness (CS). Single-nucleotide polymorphisms (SNPs) of CSNK1E, rs1534891 and rs2075984, were genotyped. Chi-square analyses were performed to evaluate associations involving alleles and genotypes. Haplotype analysis was also performed, and the permutation p value was calculated. We also tested further associations involving these SNPs and scores on the CS.
We found a positive association between SNP rs2075984 and bipolar disorder in both the allelic (p = .003) and genotypic (p = .006) distributions. No allelic or genotypic association between SNP rs1534891 and bipolar disorder was observed. A significant association of haplotype with bipolar disorder was found (p = .033). However, no association between the CS and the genotype of either SNP was found in the total sample.
CSNK1E SNP rs2075984 seemed to play a significant role in the development of bipolar disorder in this Korean sample. This association does not seem to relate to the phase preference measured by the CS. Further studies on CSNK1E with larger samples and more SNPs are necessary.
昼夜节律紊乱是双相情感障碍表型的重要组成部分之一。据报道，生物钟基因家族成员酪蛋白激酶1ε（CSNK1E）与精神疾病表型有关。
我们进行了一项基因关联研究，以确定CSNK1E在韩国人群双相情感障碍和昼夜节律紊乱中的遗传作用。
本研究纳入215例双相情感障碍患者和773名对照。采用韩国版晨型综合量表（CS）测量昼夜节律特征。对CSNK1E的单核苷酸多态性（SNP）rs1534891和rs2075984进行基因分型。进行卡方分析以评估等位基因和基因型的关联。还进行了单倍型分析，并计算了置换p值。我们还测试了这些SNP与CS评分之间的进一步关联。
我们发现SNP rs2075984在等位基因（p = 0.003）和基因型（p = 0.006）分布上与双相情感障碍呈正相关。未观察到SNP rs1534891与双相情感障碍之间的等位基因或基因型关联。发现单倍型与双相情感障碍有显著关联（p = 0.033）。然而，在总样本中未发现CS与任一SNP的基因型之间存在关联。
在这个韩国样本中，CSNK1E SNP rs2075984似乎在双相情感障碍的发生中起重要作用。这种关联似乎与CS测量的相位偏好无关。需要对更大样本和更多SNP的CSNK1E进行进一步研究。
