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Role of CACNA1C gene polymorphisms and protein expressions in the pathogenesis of schizophrenia: a case-control study in a Chinese population

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Abstract

The study aimed to investigate the correlations of CACNA1C genetic polymorphisms and protein expression with the pathogenesis of schizophrenia in a Chinese population. This research included 139 patients diagnosed with schizophrenia (case group) and 141 healthy volunteers (control group). Case and control samples were genotyped using denaturing high-performance liquid chromatography (DHPLC). Haplotypes of rs10848683, rs2238032, and rs2299661 were analyzed using the Shesis software. A mouse model of schizophrenia was established and assigned to test and blank groups. Western blotting was used to detect CACNA1C protein expression. The genotype and allele distribution of rs2238032 and rs2299661 differed between the case and control groups. TT genotype of rs2238032 and G allele of rs2299661 could potentially reduce the risk of schizophrenia. The distribution of rs2238032 genotype has a close connection with cognitive disturbance and the results of the general psychopathology classification exam. The distribution of rs2299661 genotypes was closely related to sensory and perceptual disorders, negative symptom subscales, and the results of the general psychopathology classification exam. CTC haplotype increased and CTG decreased the risk of schizophrenia in healthy people. In the brain tissues of mice with schizophrenia, the CACNA1C protein expression was higher in the test group than in the blank group. Our study demonstrated that CACNA1C gene polymorphisms and CACNA1C protein expression were associated with schizophrenia and its clinical phenotypes.

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Acknowledgements

We would like to acknowledge the reviewers for their helpful comments on this paper.

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Author notes

  1. Sheng-Yu Zhang and Qiang Hu contributed equally.

Authors and Affiliations

  1. Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Institute of Forensic Science, Ministry of Justice, No. 1347, Guangfu West Road, Putuo District, Shanghai, 200063, People’s Republic of China

    Sheng-Yu Zhang, Tao Tang, Chao Liu & Wei-Xiong Cai

  2. Department of Psychology, Qiqihar Mental Health Center, No. 28, Linhua Road, Jianhua District, Qiqihar, 161000, Heilongjiang Province, People’s Republic of China

    Qiang Hu & Xiao-Guang Yang

  3. Department of Psychiatry, Qiqihar Medical University, Qiqihar, 161000, People’s Republic of China

    Cheng-Chong Li

  4. Center for the Treatment and Study of Anxiety, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Yin-Yin Zang

Authors
  1. Sheng-Yu Zhang
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  2. Qiang Hu
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  3. Tao Tang
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  4. Chao Liu
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  5. Cheng-Chong Li
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  7. Yin-Yin Zang
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  8. Wei-Xiong Cai
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Corresponding authors

Correspondence to Qiang Hu or Wei-Xiong Cai.

Ethics declarations

The study was approved and supervised by the Ethics Committee of our hospital. Written informed consent was obtained from all study subjects and/or their legal guardians.

Funding

This study was supported by the National Key Research and Development Program of China (2016YFC0800701), the Science and Technology Committee of Shanghai Municipality (14DZ2270800/16DZ2290900/17DZ2273200); the Ministry of Finance, P.R. China (GY2014Z-2) and Shanghai Key Laboratory of Psychotic Disorders (13dz2260500).

Conflict of interest

The authors have declared that they have no competing interests.

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Zhang, SY., Hu, Q., Tang, T. et al. Role of CACNA1C gene polymorphisms and protein expressions in the pathogenesis of schizophrenia: a case-control study in a Chinese population. Neurol Sci 38, 1393–1403 (2017). https://doi.org/10.1007/s10072-017-2963-0

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  • DOI: https://doi.org/10.1007/s10072-017-2963-0

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