亚甲基四氢叶酸还原酶（MTHFR）基因677C>T多态性与双相情感障碍及精神分裂症的关联
Association of 677C>T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene with bipolar disorder and schizophrenia.
作者信息
Kempisty Bartosz, Mostowska Adrianna, Górska Ilona, Łuczak Marta, Czerski Piotr, Szczepankiewicz Aleksandra, Hauser Joanna, Jagodziński Paweł P
机构信息
Department of Biochemistry and Molecular Biology, University of Medical Sciences, 6 Swiecickiego St., 60-781 Poznan, Poland.
出版信息
Neurosci Lett. 2006 Jun 12;400(3):267-71. doi: 10.1016/j.neulet.2006.02.055. Epub 2006 Mar 20.
Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism 677C>T has been shown to be a risk factor for psychiatric disorders. We investigated the genotype and allelic frequencies of MTHFR 677C>T polymorphism in the group of patients with bipolar disorder type I (BDI) (n=200) and schizophrenia (n=200), and in the control group (n=300). Odds ratio (OR) for patients with BD and schizophrenia with 677T allele was 1.988 ((95% CI=1.370-2.883); P=0.0003 (P=0.0006 after Bonferroni correction)) and 1.796 ((95% CI=1.237-2.609); P=0.0020 (P=0.0040 after Bonferroni correction)), respectively. The stratification of patients based on gender revealed significant association of 677T allele with male patients with BDI and schizophrenia (OR=2.393; 95% CI=1.429-4.006; P=0.0008 and OR=2.036; 95% CI=1.207-3.433; P=0.0073, respectively). This finding indicates possible association of BD and schizophrenia with the 1p36.3 MTHFR locus.
亚甲基四氢叶酸还原酶（MTHFR）基因677C>T多态性已被证明是精神疾病的一个风险因素。我们调查了I型双相情感障碍（BDI）患者组（n = 200）、精神分裂症患者组（n = 200）以及对照组（n = 300）中MTHFR 677C>T多态性的基因型和等位基因频率。携带677T等位基因的BD患者和精神分裂症患者的比值比（OR）分别为1.988（95%可信区间[CI]=1.370 - 2.883；P = 0.0003（Bonferroni校正后P = 0.0006））和1.796（95% CI = 1.237 - 2.609；P = 0.0020（Bonferroni校正后P = 0.0040））。根据性别对患者进行分层后发现，677T等位基因与男性BDI患者和精神分裂症患者存在显著关联（OR分别为2.393；95% CI = 1.429 - 4.006；P = 0.0008和OR = 2.036；95% CI = 1.207 - 3.433；P = 0.0073）。这一发现表明BD和精神分裂症可能与1p36.3的MTHFR基因座相关。
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