亚甲基四氢叶酸还原酶基因多态性与抑郁症的关联研究

Association of methylenetetrahydrofolate reductase gene polymorphism with depression

目的探讨亚甲基四氢叶酸还原酶（MTHFR）C677T多态性与抑郁症及症状表型的相关性。方法采用聚合酶链反应-限制性片段长度多态性技术（PCR-RFLP）研究100例抑郁症患者及100例对照组正常人的MTHFR基因的多态性分布；采用汉密尔顿抑郁量表（HAMD）评定症状表型。结果抑郁症患者组TT型、Tc型、cc型基因频率分布及T、C等位基因频率分布与对照组比较差异有显著性（x2=8．72，P〈0．05；X2=8．62，P〈0．05）。按性别分层后，男性抑郁症组，TT基因型的频率（25．0％）明显高于对照组（6．3％），而CC基因型的频率（25．0％）显著低于对照组（55．3％）（P〈0．05）；患者组中症状表型在3种基因型间分布差异无显著性（P〉0．05）。结论MTHFC677T基因的多态性与抑郁症发病相关，其相关性受性别影响，而与症状表型间无明显的关联。

Objective To explore the association among the depression, symptom phnotypes and polymorphism MTHFR C677T in the Han Chinese. Methods MTHFR C677T was determined using a PCR-based tech- nique. MTHFR was genotyped using restriction fragment length polymorphism in 100 patients affected by depression and 100 unrelated controls. The symptom phenotype of cases was evaluated applying the Hamilton Rating Scale for depression（HAMD）. Results There were three kinds of genotype： homozygous mutation（TT）, heterozygous mu- tation（TC）, wide-type（ CC ）. There was significant difference in the frequencies of genotype and alleles between two groups （ X2 = 8.72, P 〈 0.05 ; X2 = 8.62, P 〈 0.05 ）. Meanwhile, among the males, a trend was observed toward an excess of MTHFR T/T （25.0% vs 6.3% ） in patients and excess of MTHFR C/C in controls（55.3% vs 25.0% ）（P〈O. 05 ）. There were no significant differences in three genotypes distribution among symptom pheno- types of cases（P〉 0.05 ）. Conclusion There is an association between MTHFR C677T polymorphism and depression. The findings raise the possibility that MTHFR C677T polymorphism may exert differential effects based on gender. There is no association among MTHFR C677T polymorphism and symptom phenotypes of depression.