DNA methylation in schizophrenia: progress and challenges  

DNA甲基化在精神分裂症中的作用:研究进展及挑战（英文）

作　　者：宗小芬 胡茂林 李宗昌 曹红宝 陈晓岗 唐劲松 

机构地区：[1]Institute of Mental Health, The Second Xiangya Hospital of Central South University [2]Unit on Statistical Genomics, National Institute of Mental Health, NIH, Bethesda 20852, USA [3]Key Laboratory of Psychiatry and Mental Health of Hunan Province, Central South University [4]National Technology of Institute of Psychiatry, Central South University

出　　处：《Science Bulletin》2015年第2期149-155,I0001,共8页科学通报（英文版）

基　　金：supported by the National Natural Science Foundation of China(81271484 and 81471361 toX.C,30900486 and 81371480 to J.T);the National Key Basic Research and Development Program(2012CB517904 to X.C)

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.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.本文简要介绍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Reelin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.

关 键 词：SCHIZOPHRENIA EPIGENETICS DNA methylation REELIN CATECHOL-O-METHYLTRANSFERASE 

分 类 号：R749.3[医药卫生—神经病学与精神病学]