中文摘要：

精神分裂症是一种异质性精神障碍，目前多数学者认为该病由遗传及环境风险因子共同致病．传统的遗传学研究识别了一些精神分裂症的候选基因，然而，外显率及比值比较低，以及可重复性较差，使得这些候选基因在精神分裂症发病机制中的角色受到限制．精神分裂症的流行病学研究发现了一些可能与该病相关的环境风险因子，但仍受到方法学的限制以及互相矛盾的流行病学调查结果的困扰．目前，在环境与基因中间起调解作用的表观遗传学，可能在精神分裂症的发病机制中起重要作用．DNA甲基化是最稳定且研究最深入的一种表观遗传学修饰．本文简要个绍DNA甲基化机制，主要评述精神分裂症中基因组及特异位点如候选基因尺Reelin流与COMT甲基化研究现状，以及DNA甲基化在精神分裂症中的研究困境．

英文摘要：

Schizophrenia is a heterogeneous psychiatric disorder broadly accepted being caused by genetic and environmental factors. Although conventional genetic studies have identified some candidate genes for schizophrenia, low odds ratios and penetrance, and a lack of reproducibility have limited their explanatory power. Despite the major efforts made toward identifying environmental factors in schizophrenia, methodological limitations and inconsistent findings of epidemiological reports have obstructed attempts to identify exogenous causal factors. Epigenetic mechanisms, mediating between environment and genes, have recently been proposed to play an important role in the pathogenesis of schizophrenia. DNA methylation is the most stable and well-characterized epigenetic modification. In this paper, we briefly introduce DNA methylation mechanisms, genome-wide DNA methylation studies, and identify specific genomic methylation sites in individuals diagnosed with schizophrenia. The outline candidate genes such as Reelin and COMT, are also outlined before paying attention to the conundrum of recent researches.