Kim Soojin, Cho Chul-Hyun, Geum Dongho, Lee Heon-Jeong
Department of Biomedical Sciences, Korea University Medical School, Seoul, Republic of Korea.
Department of Psychiatry, Korea University College of Medicine, Seoul, Republic of Korea.
Psychiatry Investig. 2016 Jul;13(4):453-7. doi: 10.4306/pi.2016.13.4.453. Epub 2016 Jul 25.
Previous studies have suggested an association between CACNA1C and susceptibility of bipolar disorder. In this study, we examined the association of CACNA1C variants with bipolar disorder in the Korean population.
We selected 2 CACNA1C single nucleotide polymorphisms (SNPs), namely, rs723672 and rs1051375, based on their functions and minor allele frequencies described in previous studies. Genotypes of these 2 SNPs were analyzed by extracting DNA from blood samples collected from 287 patients with bipolar disorder and 340 healthy controls.
Genotype frequencies of both rs723672 and rs1051375 SNPs were significantly different in patients and controls (p=0.0462 and 1.732E-14, respectively). Dominant, recessive, and allele models showed significant differences between patients and controls with respect to the rs1051375 SNP (p=1.72E-11, 4.17E-10, 4.95E-16, respectively).
Our results suggested that CACNA1C SNPs rs723672 and rs1051375 were associated with bipolar disorder in the Korean population. In addition, our results highlighted the importance of CACNA1C in determining susceptibility to bipolar disorder.
先前的研究表明，CACNA1C与双相情感障碍易感性之间存在关联。在本研究中，我们调查了韩国人群中CACNA1C基因变异与双相情感障碍的关联。
根据先前研究中描述的功能和次要等位基因频率，我们选择了2个CACNA1C单核苷酸多态性（SNP），即rs723672和rs1051375。通过从287例双相情感障碍患者和340例健康对照者采集的血液样本中提取DNA，分析这2个SNP的基因型。
rs723672和rs1051375这两个SNP的基因型频率在患者和对照者中均有显著差异（分别为p = 0.0462和1.732E-14）。显性、隐性和等位基因模型显示，rs1051375 SNP在患者和对照者之间存在显著差异（分别为p = 1.72E-11、4.17E-10、4.95E-16）。
我们的结果表明，CACNA1C基因的SNP rs723672和rs1051375与韩国人群的双相情感障碍有关。此外，我们的结果突出了CACNA1C在决定双相情感障碍易感性方面的重要性。
