›› 2020, Vol. 40 ›› Issue (3): 310-.doi: 10.3969/j.issn.1674-8115.2020.03.006

• Original article (Basic research) • Previous Articles     Next Articles

Association analysis of single nucleotide polymorphisms in the promoter region of GAD1 and GABRB3 with schizophrenia in Chinese Han population

LI Na, AN Yu, ZHANG Yong-lu, DING Zhi-jie, WU Bai-lin, LAN Xiao-ping   

  1. 1. College of Life Science and Technology, Long Dong University, Gansu Province, Qingyang 745000, China; 2. Human Phenome Institute, Fudan University, Shanghai 201203, China; 3. Department of Psychiatry, The Third Peoples Hospital of Tianshui, Gansu Province, Tianshui 741000, China; 4. Institute of Biomedical Sciences, Fudan University, Shanghai 200032, China; 5. Tianshui Normal University School of Biological Engineering and Technology, Gansu Province, Tianshui 741000, China; 6. Department of Clinical Laboratory, Shanghai Childrens Hospital, Childrens Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200040, China
  • Online:2020-03-28 Published:2020-04-09
  • Supported by:
    The Higher Education Research Project of Gansu Province (2015B-094); Youth Science and Technology Innovation Project of Long Dong University (XYZK1805).

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Abstract: Objective · To investigate the correlation between the polymorphisms of locus in the promoter region of glutamate decarboxylase 1 (GAD1) gene and γ-aminobutyric acid (GABA)A receptor β-3 gene (GABRB3) and schizophrenia (SZ) in Chinese Han population. Methods · SNaPshot genotyping technique was used to detect the polymorphisms of rs3791878 and rs3749034 in the promoter region of GAD1 and rs4906902 in the promoter region of GABRB3 in 545 SZ patients (case group) and 624 healthy controls (control group). The distribution of alleles and genotypes under different genetic models between the case group and the control group in all samples were comparedSNPstats online software. The above analysis was also performed after the subjects were stratified according to gender. The correlation of G/T risk genotype of rs3791878 with the age of the first onset of male SZ was investigatedsurvival analysis. Results · Under over-dominant genetic model, the distribution of G/T risk genotype of rs3791878 showed statistically difference between the male SZ cases and male controls (P0.000), and the difference was still statistically significant after Bonferroni correction (P0.000). However, there was no significant difference in the distribution of alleles and genotypes under different genetic models of rs3749034 and rs4906902 between the case group and the control group in all samples (P>0.05), and there was also no significant difference in the distribution of alleles between the case group and the control group after them being stratified according to gender (P>0.05). Kaplan-Meier analysis showed that there was no significant difference between the age of onset of male SZ who carried G/T genotype in rs3791878 locus and that of male SZ who did not carry it (P0.603). Conclusion · The polymorphism of rs3791878 in the promoter region of GAD1 is significantly associated with the incidence of male SZ in Chinese Han population.

Key words: schizophrenia (SZ), glutamate decarboxylase 1 (GAD1) gene, γ-aminobutyric acid (GABA)A receptor β-3 (GABRB3) gene, association study