Luo Xin, Jin Chunhui, Zhou Zhenhe, Zhang Fuquan, Yuan Jianmin, Liu Xiaowei, Cheng Zaohuo
aWuxi Mental Health Center, Nanjing Medical University bJiangsu Institute of Psychology, Wuxi, Jiangsu Province, People's Republic of China.
Psychiatr Genet. 2016 Jun;26(3):132-5. doi: 10.1097/YPG.0000000000000123.
Our previous study confirmed that the 'AA' genotype carriers of DISC1 single nucleotide polymorphism (SNP) rs821616 had a significantly increased risk for schizophrenia (SCZ) in comparison with noncarriers. To further explore the relationship of DISC1 genetic variants with the risk of SCZ in Han Chinese, we designed the present two-step study. We sequenced the promoter and untranslated regions of the DISC1 gene using genomic DNA of 100 SCZ patients and identified 17 SNPs. All SNPs were then genotyped and analyzed through a case-control study with 1154 healthy controls and 1447 patients. In an association analysis, neither allelic nor genotypic modeling indicated a significant association between the risk of SCZ and all SNPs. In addition, we observed that a two-marker haplotype was nominally associated with protection for SCZ (P = 0.0476). The present findings, at least in part, provide some clues for further investigating the association of DISC1 variants with SCZ susceptibility.
我们之前的研究证实，与非携带者相比，DISC1单核苷酸多态性（SNP）rs821616的“AA”基因型携带者患精神分裂症（SCZ）的风险显著增加。为了进一步探究DISC1基因变异与汉族人群SCZ风险之间的关系，我们设计了本两步研究。我们使用100例SCZ患者的基因组DNA对DISC1基因的启动子和非翻译区进行了测序，并鉴定出17个SNP。随后，通过对1154名健康对照者和1447例患者进行病例对照研究，对所有SNP进行基因分型和分析。在关联分析中，无论是等位基因模型还是基因型模型，均未表明SCZ风险与所有SNP之间存在显著关联。此外，我们观察到一种双标记单倍型与SCZ的保护作用存在名义上的关联（P = 0.0476）。本研究结果至少部分地为进一步研究DISC1变异与SCZ易感性之间的关联提供了一些线索。
