Association of the NOTCH4 Gene Polymorphism rs204993 with Schizophrenia in the Chinese Han Population.
Association of the NOTCH4 Gene Polymorphism rs204993 with Schizophrenia in the Chinese Han Population.
复制标题
NOTCH4基因rs204993多态性与中国汉族人群精神分裂症的相关性
DOI：
10.1155/2015/408096
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发表时间：
2015
影响因子：
--
通讯作者：
Li DX
中科院分区：
文献类型：
--
作者：
Zhang B;Fan QR;Li WH;Lu N;Fu DK;Kang YJ;Wang N;Li T;Wen XP;Li DX
NOTCH4调节与神经元成熟相关的信号通路，这是一个涉及中枢神经系统发育和模式的过程。NOTCH4基因也被确定为精神分裂症（SCZ）的可能易感基因。本研究的目的是研究NOTCH4多态性与中国汉族人群SCZ之间的关系。对443例SCZ患者和628例汉族对照进行NOTCH4基因rs2071287和rs204993多态性分析。使用不同的模型（即加性、显性和隐性模型）分析单SNP等位基因、基因型和性别特异性关联。本关联研究显示rs204993多态性与SCZ易感性显著相关，rs204993的AA基因型与SCZ易感性增高相关（P = 0.027; OR = 1.460; 95% CI, 1.043 ~ 2.054）。我们的数据与以往的研究结果一致，rs204993与SCZ相关，rs204993的AA基因型风险更高。在汉族人群中进一步的大规模关联分析是有必要的。
NOTCH4 regulates signaling pathways associated with neuronal maturation, a process involved in the development and patterning of the central nervous system. The NOTCH4 gene has also been identified as a possible susceptibility gene for schizophrenia (SCZ). The objective of this study was to examine the relationship between NOTCH4 polymorphisms and SCZ in the Chinese Han population. The rs2071287 and rs204993 polymorphisms of the NOTCH4 gene were analyzed in 443 patients with SCZ and 628 controls of Han Chinese descent. Single SNP allele-, genotype-, and gender-specific associations were analyzed using different models (i.e., additive, dominant, and recessive models). This association study revealed that the rs204993 polymorphism is significantly associated with susceptibility for SCZ and that the AA genotype of rs204993 is associated with a higher risk for SCZ (P = 0.027; OR = 1.460; 95% CI, 1.043–2.054). Our data are consistent with those obtained in previous studies that suggested that rs204993 is associated with SCZ and that the AA genotype of rs204993 demonstrates a higher risk. Further large-scale association analyses in Han Chinese populations are warranted.