Li Jingjie, Chen Zhengshuai, Wang Fengjiao, Ouyang Yongri, Zhang Ning, Yang Min, Yan Mengdan, Zhu Xikai, He Xue, Yuan Dongya, Jin Tianbo
School of Life Sciences, Northwest University, Xi'an, Shaanxi, China.
Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, China.
Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1006-1012. doi: 10.1002/ajmg.b.32449. Epub 2016 Apr 22.
Schizophrenia (SCZ) is a complex and severe mental disorder with highly heritability (80%). Several large genome-wide association studies have identified that the transcription factor 4 (TCF4) polymorphisms were strongly associated with SCZ. Therefore, the present study was to replicate the potential relationships between the TCF4 polymorphisms and SCZ. Furthermore, the study also investigated whether other variants were associated with SCZ in the Han Chinese. We conducted a case-control study including 499 patients and 500 healthy controls. Five SNPs were successfully genotyped and evaluated the association with SCZ by using χ test and genetic model analysis. We found that the genotype "AG" of rs9320010 and "GA" of rs7235757 decreased SCZ risk (OR = 0.70, 95%CI = 0.50-0.99, P = 0.041; OR = 0.69, 95%CI = 0.49-0.97, P = 0.034, respectively). In the genetic model analysis, we also observed that the allele "A" of rs9320010 and "G" of rs7235757 were inversely related with the risk of SCZ in the dominant model (OR = 0.72, 95%CI = 0.52-0.98, P = 0.039; OR = 0.69, 95%CI = 0.50-0.96, P = 0.025, respectively). Further interaction and stratification analysis suggested that rs1452787 was notably correlated with increased SCZ risk in males (OR = 2.77, 95%CI = 1.43-5.35, P = 0.002). Our study indicated that rs9320010, rs7235757, and rs1452787 were prominently associated with SCZ. Further studies are required to verify our findings and focus on determining the biological functions of the SNPs. © 2016 Wiley Periodicals, Inc.
精神分裂症（SCZ）是一种复杂且严重的精神障碍，具有高度遗传性（80%）。多项大型全基因组关联研究已确定转录因子4（TCF4）多态性与SCZ密切相关。因此，本研究旨在重复验证TCF4多态性与SCZ之间的潜在关系。此外，该研究还调查了汉族人群中其他变异是否与SCZ相关。我们开展了一项病例对照研究，纳入499例患者和500名健康对照。成功对5个单核苷酸多态性（SNP）进行基因分型，并通过χ检验和遗传模型分析评估其与SCZ的关联。我们发现，rs9320010的“AG”基因型和rs7235757的“GA”基因型降低了SCZ风险（OR = 0.70，95%CI = 0.50 - 0.99，P = 0.041；OR = 0.69，95%CI = 0.49 - 0.97，P = 0.034）。在遗传模型分析中，我们还观察到，在显性模型中，rs9320010 的“A”等位基因和rs7235757的“G”等位基因与SCZ风险呈负相关（OR = 0.72，95%CI = 0.52 - 0.98，P = 0.039；OR = 0.69，95%CI = 0.50 - 0.96，P = 0.025）。进一步的相互作用和分层分析表明，rs1452787与男性SCZ风险增加显著相关（OR = 2.77，95%CI = 1.43 - 5.35，P = 0.002）。我们的研究表明，rs9320010、rs7235757和rs1452787与SCZ显著相关。需要进一步研究来验证我们的发现，并着重确定这些SNP的生物学功能。© 2016威利期刊公司
