Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, 600 Wan Ping Nan Road, Shanghai 200030, PR China.
Brain Res. 2010 Mar 12;1320:130-4. doi: 10.1016/j.brainres.2009.12.049. Epub 2010 Jan 4.
Several lines of evidence have suggested that two functional methylenetetrahydrofolate reductase gene (MTHFR) polymorphisms, C677T and A1298C, may be implicated in the etiology of schizophrenia. We examined these MTHFR polymorphisms in 111 families, composed of a patient and their parents, as well as 143 mothers of patients with schizophrenia and 235 age-matched mothers who had healthy children. The maternal MTHFR 1298C allele was associated with a significantly increased risk of schizophrenia (OR=1.63, 95%CI: 1.11-2.39, P=0.01). The haplotype analysis showed a weak association for the 1298C-677C haplotype (OR=1.54, 95%CI=1.03-2.29, P=0.04). Analysis of Transmission Disequilibrium Test (TDT) showed no preferential transmission of 1298C and 677T alleles from parents to probands (P=0.64 and P=0.71, respectively). Our results suggest that deficient MTHFR enzyme activity in pregnant women, related to the A1298C variant, is associated with a higher risk of having offspring affected with schizophrenia. Given the low sample size in this study, the present results seem tentative and need further studies to replicate.
有几条证据表明，两种功能性亚甲基四氢叶酸还原酶基因（MTHFR）多态性，C677T 和 A1298C，可能与精神分裂症的病因有关。我们在 111 个家庭中检查了这些 MTHFR 多态性，这些家庭由患者及其父母组成，以及 143 名精神分裂症患者的母亲和 235 名年龄匹配的健康儿童的母亲。母体 MTHFR 1298C 等位基因与精神分裂症的风险显著增加相关（OR=1.63，95%CI：1.11-2.39，P=0.01）。单倍型分析显示 1298C-677C 单倍型存在较弱的关联（OR=1.54，95%CI=1.03-2.29，P=0.04）。传递不平衡测试（TDT）分析显示，父母向先证者传递 1298C 和 677T 等位基因没有偏好（P=0.64 和 P=0.71，分别）。我们的结果表明，孕妇中 MTHFR 酶活性不足，与 A1298C 变异有关，与后代患精神分裂症的风险增加有关。考虑到本研究的样本量较小，目前的结果似乎是暂定的，需要进一步的研究来复制。
