南方医科大学学报Issue(2)：256-259,4.DOI:10.3969/j.issn.1673-4254.2015.02.20
GABRB2基因启动子区单核苷酸多态性与精神分裂症的关联
Association of single nucleotide polymorphisms in the promoter of GABAA receptor β2 subunit gene with schizophrenia
摘要
Abstract
Objective To investigate the genetic association between schizophrenia and the polymorphism of GABAA receptorβ2 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.关键词
精神分裂症/GABRB2基因/启动子/单核苷酸多态性Key words
schizophrenia/GABRB2 gene/promoter/single nucleotide polymorphism引用本文复制引用
周林,宗璐,张璐璐,邓聪,赵存友..GABRB2基因启动子区单核苷酸多态性与精神分裂症的关联[J].南方医科大学学报,2015,(2):256-259,4.基金项目
国家自然科学基金（81371475）；广东省自然科学基金（S2012010009664）；广东省教育厅人才启动基金（2050205）；高等学校博士学科点专项科研基金 （）
