The study of association between methylenetetrahydrofolate reductase gene and schizophrenia

精神分裂症是一种以DNA甲基化等表观遗传机制为基础的神经发育障碍，近年来有证据表明，亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）基因多态性与精神分裂症的发病机制有关，虽然已有研究表明MTHFR基因多态性与精神分裂症的发病呈正相关，在本研究中，我们使用大规模样本（病例=723，对照=767）进行了全基因关联研究，在日本人群中，MTHFR基因的7个标签SNPs的单标记分析与精神分裂症无显著关联。将需要使用种族不同的人群进行进一步的调查，以获得结论性的结果是否MTHFR有助于精神分裂症或其他精神疾病的发展作为一个遗传因素。

Schizophrenia is considered to be a neuiodevelopmental disorder with epigenetic mechanisms such as DNA methylation.Several lines of evidence have suggested that polymorphisms of methylenetetrahydrofolate reductase (MTHFR), a critical molecule for single-carbon transfer reactions, are related to the pathogenesis of schizophrenia.Although a number of studies demonstrated positive association between MTHFR polymorphisms and schizophrenia, there is lack of consistency.In the present study, we conducted the gene-wide association study using large-scale samples (case=723, control=767).There was no significant association with schizophrenia in single-marker analysis for 7 tagging SNPs of MTHFR gene in the Japanese population. Further investigation using ethnirally different populations will be needed to obtain conclusive results whether MTHFR contributes as a genetic factor for the developments of schizophrenia or other psycbiatric disorders.