Yuan Jianmin, Jin Chunhui, Sha Weiwei, Zhou Zhenhe, Zhang Fuquan, Wang Mingzhong, Wang Jun, Li Jianfeng, Feng Xuwei, Yu Shui, Wang Jidong
Wuxi Mental Health Center, Wuxi 214151, Jiangsu Province, China.
Yangzhou Wutaishan Hospital, Yangzhou, Jiangsu Province, China.
Schizophr Res. 2014 Jun;156(1):66-70. doi: 10.1016/j.schres.2014.04.004. Epub 2014 Apr 29.
Evidence from genetic studies has revealed that genome-wide rare copy number variations (CNVs) are risk factors for neurodevelopmental disorders and this evidence has given rise to a new understanding of disease etiology, including that of schizophrenia (SCZ). Recent studies have indicated that duplication in the vasoactive intestinal peptide receptor-2 (VIPR2) gene confers the susceptibility to SCZ in Caucasians, but so far this finding has still not been confirmed in Chinese populations. In this study, we investigated the association between CNVs in VIPR2 and SCZ risk in an independent case-control study of Han Chinese using 1035 cases and 1535 controls. The CNVs were genotyped using the multiplex fluorescence competitive PCR method. In contrast with a common genotype (2-copy), a microduplication variant genotype (3-copy) was only carried by SCZ patients (4/1035). This finding indicated that CNVs in VIPR2 may impose a significantly increased risk of SCZ in Han Chinese (P=0.02646, OR=infinity, 95% CI=1.327-infinity). Thus, our results suggest that carriers of microduplication genotypes of VIPR2 are predisposed to SCZ in Han Chinese.
基因研究的证据表明，全基因组范围内的罕见拷贝数变异（CNV）是神经发育障碍的风险因素，这一证据引发了对疾病病因的新认识，包括精神分裂症（SCZ）的病因。最近的研究表明，血管活性肠肽受体2（VIPR2）基因的重复会使白种人易患SCZ，但迄今为止，这一发现尚未在中国人群中得到证实。在本研究中，我们在一项针对汉族人群的独立病例对照研究中，使用1035例病例和1535例对照，调查了VIPR2基因CNV与SCZ风险之间的关联。采用多重荧光竞争性PCR方法对CNV进行基因分型。与常见基因型（2拷贝）相比，微重复变异基因型（3拷贝）仅在SCZ患者中出现（4/1035）。这一发现表明，VIPR2基因的CNV可能会显著增加汉族人群患SCZ的风险（P=0.02646，OR=无穷大，95%CI=1.327 - 无穷大）。因此，我们的结果表明，VIPR2基因微重复基因型的携带者在汉族人群中易患SCZ。
