Kunugi H, Fukuda R, Hattori M, Kato T, Tatsumi M, Sakai T, Hirose T, Nanko S
Department of Psychiatry, Teikyo University School of Medicine, Tokyo, Japan.
Mol Psychiatry. 1998 Sep;3(5):435-7. doi: 10.1038/sj.mp.4000390.
A common missense mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) has been shown to be a risk factor for premature cardiovascular disease and neural tube defect. Deficient activity of MTHFR has also been implicated in the pathogenesis of psychiatric conditions such as schizophrenia and affective disorders. Arinami et al found an increased frequency of homozygosity for the mutated type (T677) of the MTHFR gene in schizophrenia and depression. We tried to replicate this finding in a sample of 343 patients with schizophrenia, 143 with bipolar disorder, 71 with unipolar depression, and 258 controls; however, there was no significantly increased frequency of homozygosity for the T677 allele in any of the diagnostic groups, compared to the controls. Our results suggest that homozygosity for the T677 allele of the MTHFR gene is unlikely to play a major role in the pathogenesis of schizophrenia or affective disorders in our sample.
亚甲基四氢叶酸还原酶（MTHFR）基因的一种常见错义突变（C677T）已被证明是心血管疾病早发和神经管缺陷的危险因素。MTHFR活性不足也与精神疾病如精神分裂症和情感障碍的发病机制有关。有海等发现精神分裂症和抑郁症患者中MTHFR基因的突变型（T677）纯合子频率增加。我们试图在343例精神分裂症患者、143例双相情感障碍患者、71例单相抑郁症患者和258例对照组成的样本中重复这一发现；然而，与对照组相比，任何诊断组中T677等位基因的纯合子频率均未显著增加。我们的结果表明，在我们的样本中，MTHFR基因T677等位基因的纯合子不太可能在精神分裂症或情感障碍的发病机制中起主要作用。
