Xu Feng-Ling, Yao Jun, Wu Xue, Xia Xi, Xing Jia-Xin, Xuan Jin-Feng, Liu Yong-Ping, Wang Bao-Jie
School of Forensic Medicine, China Medical University, Shenyang 110122, People's Republic of China.
Neuropsychiatr Dis Treat. 2020 Apr 16;16:985-992. doi: 10.2147/NDT.S250282. eCollection 2020.
Abnormal gene expression may cause neurotransmitter disorders, resulting in schizophrenia. The association between and the risk of schizophrenia is controversial, and there has been little research on the SNPs in the promoter region of .
The present study was performed to detect the association between SNPs in the promoter region of the gene and the risk of schizophrenia.
In this study, the 1757-bp fragment (-1119-+600, TSS+1) of was amplified and sequenced in 198 schizophrenia patients and 264 healthy controls of the northern Chinese Han population. Allele, genotype and haplotype frequencies were analyzed by chi-square test.
Four SNPs were detected in the region. LD analysis determined that rs7515900 was linked to rs10917671 (D' = 1, r = 1). Therefore, the data for rs10917671 were eliminated from further analysis. Genotype TT of rs12041948 ( = 0.009, OR = 1.829, and 95% CI = 0.038-0.766) was significantly different between the two groups in the northern Chinese Han population. In males, genotype GG of rs6678136 ( = 0.009, OR = 2.292, and 95% CI = 1.256-4.18) and CC of rs7515900 ( = 0.003, OR = 2.523, and 95% CI = 1.332-4.778) were significantly different.
The results of this study suggested that genotype TT of rs12041948 in the pooled male and female samples and GG of rs6678136 and CC of rs7515900 in the male samples could be risk factors for schizophrenia. The present study is the first to detect an association between SNPs in the promoter region of the gene and the risk of schizophrenia in the northern Chinese Han population. Functional studies are required to confirm these findings.
基因表达异常可能导致神经递质紊乱，进而引发精神分裂症。[基因名称]与精神分裂症风险之间的关联存在争议，且对[基因名称]启动子区域单核苷酸多态性（SNPs）的研究较少。
本研究旨在检测[基因名称]启动子区域SNPs与精神分裂症风险之间的关联。
本研究对198例中国北方汉族精神分裂症患者和264例健康对照者扩增并测序了[基因名称]的1757 bp片段（-1119至+600，转录起始位点+1）。采用卡方检验分析等位基因、基因型和单倍型频率。
在该区域检测到4个SNPs。连锁不平衡（LD）分析确定rs7515900与rs10917671连锁（D' = 1，r = 1）。因此，rs10917671的数据被排除在进一步分析之外。在中国北方汉族人群的两组样本中，rs12041948的基因型TT（P = 0.009，OR = 1.829，95%可信区间[CI] = 0.038 - 0.766）存在显著差异。在男性中，rs6678136的基因型GG（P = 0.009，OR = 2.292，95% CI = 1.256 - 4.18）和rs7515900的基因型CC（P = 0.003，OR = 2.523，95% CI = 1.332 - 4.778）存在显著差异。
本研究结果表明，在合并的男性和女性样本中，rs12041948的基因型TT以及男性样本中rs6678136的基因型GG和rs7515900的基因型CC可能是精神分裂症的危险因素。本研究首次在中国北方汉族人群中检测到[基因名称]启动子区域SNPs与精神分裂症风险之间的关联。需要进行功能研究来证实这些发现。
