基因5'区域多态性与中国北方汉族人群精神分裂症的关联：一项病例对照研究
Association Between Polymorphisms in the 5' Region of the Gene and Schizophrenia in the Northern Chinese Han Population: A Case-Control Study.
作者信息
Li Ya, Gao Meng, Zeng Kuo, Xing Jia-Xin, Xu Feng-Ling, Xuan Jin-Feng, Xia Xi, Liu Yong-Ping, Yao Jun, Wang Bao-Jie
机构信息
School of Forensic Medicine, China Medical University, Shenyang 110122, People's Republic of China.
出版信息
Neuropsychiatr Dis Treat. 2020 Jun 17;16:1519-1532. doi: 10.2147/NDT.S256644. eCollection 2020.
BACKGROUND
Epidemiological studies have shown that genetic factors are among the causes of schizophrenia. Galanin receptor 1 is an inhibitory receptor of galanin that is widely distributed in the central nervous system. This study mainly explored the relationship between polymorphisms of the 5' region of the gene and schizophrenia in the northern Chinese Han population.
METHODS
A 1545 bp fragment of the 5' regulatory region of the gene was amplified and sequenced in 289 schizophrenia patients and 347 healthy controls.
RESULTS
Among the haplotypes composed of the 16 detected SNPs, the haplotype H3 was identified as conferring a risk of schizophrenia (=0.011, OR=1.430, 95% CI=1.084-1.886). In addition, the haplotypes H4 and H7 were both protective against schizophrenia (=0.024, OR=0.526, 95% CI=0.298-0.927; =0.037, OR=0.197, 95% CI=0.044-0.885, respectively). In the subgroup analysis by sex, it was found that seven SNP alleles (rs72978691, rs11662010, rs11151014, rs11151015, rs13306374, rs5373, rs13306375) conferred a risk of schizophrenia in females (<0.05), while allele G of rs7242919 (=0.007) was protective against schizophrenia in females. Moreover, the rs72978691 AA+AC genotype (=0.006, OR=1.874, 95% CI=1.196-2.937, power=0.780), rs7242919 CC+CG genotype (=0.002, OR=2.027, 95% CI=1.292-3.180, power=0.861), rs11151014 GG+GT genotype (=0.008, OR=1.834, 95% CI=1.168-2.879, power=0.735), rs11151015 GG+AG genotype (=0.002, OR=2.013, 95% CI =1.291-3.137, power=0.843), rs13306374 CC+AC genotype (=0.006, OR=1.881, 95% CI=1.198-2.953, power=0.788), and rs13306375 GG+AG genotype (=0.006, OR=1.868, 95% CI=1.194-2.921, power=0.770) increased the risk of schizophrenia in females. The haplotype FH2 consisting of rs72978691, rs11662010, rs7242919, rs11151014, rs11151015, rs13306374, rs5373, and rs13306375 may also be associated with the risk of schizophrenia in females (=0.024).
CONCLUSION
This study identified an association between polymorphisms in the 5' region of the gene and schizophrenia, especially in females.
背景
流行病学研究表明，遗传因素是精神分裂症的病因之一。甘丙肽受体1是甘丙肽的一种抑制性受体，广泛分布于中枢神经系统。本研究主要探讨该基因5'区域多态性与中国北方汉族人群精神分裂症的关系。
方法
对289例精神分裂症患者和347例健康对照者的该基因5'调控区1545bp片段进行扩增和测序。
结果
在检测到的16个单核苷酸多态性（SNP）组成的单倍型中，单倍型H3被确定为赋予精神分裂症风险（P=0.011，比值比[OR]=1.430，95%置信区间[CI]=1.084-1.886）。此外，单倍型H4和H7均对精神分裂症有保护作用（P=0.024，OR=0.526，95%CI=0.298-0.927；P=0.037，OR=0.197，95%CI=0.044-0.885）。在按性别进行的亚组分析中，发现7个SNP等位基因（rs72978691、rs11662010、rs11151014、rs11151015、rs13306374、rs5373、rs13306375）赋予女性精神分裂症风险（P<0.05）,而rs7242919的G等位基因（P=0.007）对女性精神分裂症有保护作用。此外，rs72978691的AA+AC基因型（P=0.006，OR=1.874，95%CI=1.196-2.937，检验效能=0.780）、rs7242919的CC+CG基因型（P=0.002，OR=2.027，95%CI=1.292-3.180，检验效能=0.861）、rs11151014的GG+GT基因型（P=0.008，OR=1.834，95%CI=1.168-2.879，检验效能=0.735）、rs11151015的GG+AG基因型（P=0.002，OR=2.013，95%CI =1.291-3.137，检验效能=0.843）、rs13306374的CC+AC基因型（P=0.006，OR=1.881，95%CI=1.198-2.953，检验效能=0.788）以及rs13306375的GG+AG基因型（P=0.006，OR=1.868，95%CI=1.194-2.921，检验效能=0.770）增加了女性精神分裂症的风险。由rs72978691、rs11662010、rs7242919、rs11151014、rs11151015、rs13306374、rs5373和rs13306375组成的单倍型FH2也可能与女性精神分裂症风险相关（P=0.024）。
结论
本研究确定了该基因5'区域多态性与精神分裂症之间的关联，尤其是在女性中。
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