精神分裂症的分子遗传学研究进展

Advances in Molecular Genetics of Schizophrenia

精神分裂症是一种由多因子共同作用而发生的复杂疾病。流行病学证据表明,遗传因素是该疾病发生的重要原因,可遗传性约达80%。近年来,随着人类基因组信息的不断完善以及实验技术的快速发展,精神分裂症的遗传学研究取得了显著进展。多个重要的精神分裂症候选基因初步被定位克隆,而且这些基因在功能上密切相关熏呈现出该疾病相关信号通路的大致轮廓。本文集中回顾了精神分裂症遗传学在连锁不平衡(关联)分析方面的最新成果,并总结了人们在神经生物学方面对该疾病的最新认识。

Schizophrenia(MIM 181500)is a complex disorder affecting approximately 1% of the population worldwide. Epidemiologic evidences, together with recent linkage and association studies, have clearly demonstrated the high heritability of schizophrenia(up to 80%). Uncovering the genetic mechanism of schizophrenia has became one of the greatest challenges for both psychiatry and genetics. In recent years, remarkable advances in the genetics of this disorder has been achieved with the rapid growth of human genome information and experiment technologies. Several candidate genes within some of the best-supported linkage regions have been reported and, more importantly, replicated. Moreover, these genes present a significant connection in the signaling pathways implicated in the development of schizophrenia, especially NMDA receptor-mediated glutamate transmission. In this review, we summarize the recent advances in the genetics of schizophrenia, focusing particularly on linkage disequilibrium analysis and the latest understanding of the neurobiology of the disorder.