ZNF804A基因遗传多态性在精神分裂症患者核心家系中的传递不平衡检验

摘要

Objective To explore the relationship between the single nucleotide polymorphisms (SNPs) of ZNF804A gene and schizophrenia. Methods We genotyped two SNPs (rs4666998 and rs56280129) of ZNF804A gene in 88 nuclear families using the allele-specific PCR and performed the transmission disequilibrium test (TDT). Results Significant association between an allele of marker rs4666998 and schizophrenia was found (P<0.05). In addition, test of the two-SNP haplotype association showed a trend of under-transmission from heterozygous parents to the affected offspring. Conclusion Our results provide new evidence for a positive association between the ZNF804A gene and schizophrenia. Replication of larger samples and functional analysis of ZNF804A are needed.%目的 研究ZNF804A基因中的单核苷酸多态性位点(single nucleotide polymorphisms,SNPs)和精神分裂症(schizophrenia)之间的相关性.方法 在中国汉族人群的88个精神分裂症患者核心家系中,采用等位基因特异性PCR的方法对ZNF804A基因中的2个SNPs位点(rs4666998和rs56280129)进行基因分型和传递不平衡检验(transmission disequilibrium test,TDT).结果 遗传标记rs4666998的传递差异具有统计学意义(P＜0.05).此外,对两个SNPs构建的单倍型分析表明,单倍型rs4666998-rs56280129在双亲向患病子女的传递中显示出明显的传递不平衡趋势.结论 ZNF804A基因与中国汉族人群中精神分裂症的遗传易感性密切相关.有必要使用更多的研究样本进行验证,同时开展对ZNF804A基因功能的研究.