Korean Journal of Schizophrenia Research (대한조현병학회지)

Korean Society for Schizophrenia Research (대한조현병학회)
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Association between a Genetic Variant of CACNA1C and the Risk of Schizophrenia and Bipolar I Disorder Across Diagnostic Boundaries

조현병과 제1형 양극성장애의 진단 경계를 넘어선 공통적 후보유전자로서의 CACNA1C에 대한 단일염기다형성 연합 연구

  • Lee, Bora (Department of Psychiatry, Sungkyunkwan University School of Medicine, Samsung Medical Center) ;
  • Baek, Ji Hyun (Department of Psychiatry, Sungkyunkwan University School of Medicine, Samsung Medical Center) ;
  • Cho, Eun Young (Center for Clinical Research, Samsung Biomedical Research Institute) ;
  • Yang, So-Yung (St. Andrew's Hospital) ;
  • Choi, Yoo Jin (Center for Clinical Research, Samsung Biomedical Research Institute) ;
  • Lee, Yu-Sang (Yong-In Mental Hospital) ;
  • Ha, Kyooseob (Department of Psychiatry, Seoul National University College of Medicine) ;
  • Hong, Kyung Sue (Department of Psychiatry, Sungkyunkwan University School of Medicine, Samsung Medical Center)
  • 이보라 (성균관대학교 의과대학 삼성서울병원 정신건강의학교실) ;
  • 백지현 (성균관대학교 의과대학 삼성서울병원 정신건강의학교실) ;
  • 조은영 (삼성생명과학연구소 임상의학연구센터) ;
  • 양소영 (성안드레아병원) ;
  • 최유진 (삼성생명과학연구소 임상의학연구센터) ;
  • 이유상 (용인정신병원) ;
  • 하규섭 (서울대학교 의과대학 서울대학병원 정신건강의학교실) ;
  • 홍경수 (성균관대학교 의과대학 삼성서울병원 정신건강의학교실)
  • Received : 2018.08.12
  • Accepted : 2018.09.16
  • Published : 2018.10.30
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Abstract

Objectives : 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. Methods : 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. Results : 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. Conclusion : 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.

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Acknowledgement

이 논문은 2015년도 정부(과학기술정보통신부)의 재원으로 한국연구재단의 지원을 받아 수행된 기초연구사업(No.2015R1A2A2A01002699)이며, 2015년도 보건복지부의 재원으로 한국보건산업진흥원의 보건의료기술연구개발사업 지원에 의하여 이루어진 것임(HI15C0626).