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Korean J Schizophr Res > Volume 21(2); 2018 > Article
Korean Journal of Schizophrenia Research 2018;21(2):43-50.
DOI: https://doi.org/10.16946/kjsr.2018.21.2.43    Published online October 31, 2018.
Association between a Genetic Variant of CACNA1C and the Risk of Schizophrenia and Bipolar I Disorder Across Diagnostic Boundaries.
Bora Lee, Ji Hyun Baek, Eun Young Cho, So Yung Yang, Yoo Jin Choi, Yu Sang Lee, Kyooseob Ha, Kyung Sue Hong
1Department of Psychiatry, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea. hongks@skku.edu
2Center for Clinical Research, Samsung Biomedical Research Institute, Seoul, Korea.
3St. Andrew's Hospital, Icheon, Korea.
4Yong-In Mental Hospital, Yongin, Korea.
5Department of Psychiatry, Seoul National University College of Medicine, Seoul, Korea.
Genome-wide association studies (GWASs) and meta-analyses indicate that single-nucleotide polymorphisms (SNPs) in the a-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) gene increase the risk for schizophrenia and bipolar disorders (BDs). We investigated the association between the genetic variants on CACNA1C and schizophrenia and/or BDs in the Korean population.
A total of 582 patients with schizophrenia, 336 patients with BDs consisting of 179 bipolar I disorder (BD-I) and 157 bipolar II disorder (BD-II), and 502 healthy controls were recruited. Based on previous results from other populations, three SNPs (rs10848635, rs1006737, and rs4765905) were selected and genotype-wise association was evaluated using logistic regression analysis under additive, dominant and recessive genetic models.
rs10848635 showed a significant association with schizophrenia (p=0.010), the combined schizophrenia and BD group (p=0.018), and the combined schizophrenia and BD-I group (p=0.011). The best fit model was dominant model for all of these phenotypes. The association remained significant after correction for multiple testing in schizophrenia and the combined schizophrenia and BD-I group.
We identified a possible role of CACNA1C in the common susceptibility of schizophrenia and BD-I. However no association trend was observed for BD-II. Further efforts are needed to identify a specific phenotype associated with this gene crossing the current diagnostic categories.
Key Words: CACNA1C · Schizophrenia · Bipolar disorder · SNPs · Genetic association study
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