南方医科大学学报

南方医科大学学报 ›› 2015, Vol. 35 ›› Issue (02): 256-.

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GABRB2基因启动子区单核苷酸多态性与精神分裂症的关联

周林，宗璐，张璐璐，邓聪，赵存友   

  • 出版日期:2015-02-20 发布日期:2015-02-20

Association of single nucleotide polymorphisms in the promoter of GABAA receptor β2
subunit gene with schizophrenia

  • Online:2015-02-20 Published:2015-02-20

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摘要： 目的精神分裂症是一种多基因遗传性重型精神病。我们前期工作已经发现γ-氨基丁酸（GABA）A型受体β2 亚基基因
（GABRB2）内含子8和9内多个单核苷酸多态性（SNPs）与精神分裂症相关。本项研究探GABRB2基因启动子区的多态性与精神
分裂症的相关性。方法采用特异性PCR引物扩增GABRB2基因启动子区（包含多个SNPs），并采用Sanger DNA测法对扩增的
PCR产物进行序列测定，以获得待检SNPs的基因型；采用SHEsis软件进行Hardy-Weinberg平衡分析和SPSS软件进行SNPs基
因型和等位基因频率在对照组和疾病组之间的差异分析。结果对172例精神分裂症患者和167例正常人对照分析结果发现
rs3811996与疾病显著相关：其杂合基因型（A/G）频率在疾病组显著低于对照组；在男性样本中，其A/G基因型和次要等位基因
G频率均显著低于对照组。结论本项研究表明GABRB2基因启动子区SNP rs3811996可能为男性偏执型精神分裂症的保护因
子, 支持了GABRB2基因对精神分裂症的易感性。

Abstract: Objective To investigate the genetic association between schizophrenia and the polymorphism of GABAA receptor β2
subunit (GABRB2) gene. Methods A population association analysis was performed of 5 single nucleotide polymorphisms
(SNPs) in the proximal promoter of GABRB2 gene by PCR and sequencing of the genomic DNA in a cohort of 172
schizophrenics and 167 controls of Chinese Han nationality. Results One out of the 5 SNPs, namely rs3811996, was found to be
significantly associated with schizophrenia especially in the male cohorts, where the heterozygous genotypes (A/G) and minor
allele G displayed lower frequencies in case group than in the controls. Conclusion We found a new risk, SNP rs3811996, for
paranoia schizophrenia, which further supports the importance of genetic variations of GABRB2 in the etiology of
schizophrenia.