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The GABRB3 Polymorphism and its Association with Schizophrenia

Abstract

The aim of this study was to explore whether schizophrenia occurrence is associated with polymorphisms in the 5′ regulatory region of GABRB3 (gamma-aminobutyric acid type A receptor beta 3, subunit gene). The study included 324 patients with schizophrenia and 327 unaffected participants; all individuals were northern Han Chinese. Genotype and haplotype frequency distributions were compared for the 2 groups by means of PCR amplification and direct sequencing of the promoter region of GABRB3. The genotype distribution among control participants was in accordance with the Hardy-Weinberg equilibrium. Five common single-nucleotide polymorphism (SNP) sites were detected in the 5′ promoter region of GABRB3: rs4243768, rs7171660, rs4363842, rs4906902, and rs8179184. Only rs8179184 and rs4906902 differed significantly in frequency between controls and cases (P < 0.05); this difference remained significant when only women in each group were compared. The 2 SNP sites showed linkage disequilibrium, resulting in 2 haplotypes: T-G and C-A. The frequency of C-A was significantly higher among patients with schizophrenia than among controls. Our findings suggest that rs4906902 and rs8179184 in the 5′ promoter region of GABRB3 are associated with schizophrenia. The C-A haplotype may entail an increased risk of schizophrenia, and the onset of schizophrenia may be gender-specific.

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Acknowledgements

We are grateful to the staff of China Medical University’s Department of Blood Serum in the School of Forensic Medicine and to Professor Mei Ding and Professor Hao Pang. We thank Professor Bao-jie Wang and Professor Jun Yao for the experimental design concept, technical guidance, helpful advice, and financial support. This study was supported by National Natural Science Foundation of China (No. 81601653).

Funding

This work was supported by the National Natural Science Foundation of China (No. 81601653).

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Correspondence to Bao-jie Wang or Jun Yao.

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Liu, Y., Sun, Xf., Ding, M. et al. The GABRB3 Polymorphism and its Association with Schizophrenia. J Mol Neurosci 64, 75–79 (2018). https://doi.org/10.1007/s12031-017-1003-0

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  • DOI: https://doi.org/10.1007/s12031-017-1003-0

Keywords

  • Schizophrenia
  • Single-nucleotide polymorphisms (SNPs)
  • γ-Aminobutyric acid
  • GABRB3