MTHFR基因多态性与精神分裂症的关联研究

目的探讨N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与精神分裂症发病的关系,为研究精神分裂症的发病原因提供基因学基础,也为精神分裂症的预防及治疗提供新的依据。方法采用病例-对照研究设计,收集104例精神分裂症患者和56例正常对照者的血液标本和他们的一般资料,用小剂量DNA提取试剂盒,提取人类基因组DNA。采用聚合酶连反应-限制性内切酶多态性(PCR-RFLP)技术,检测MTHFR基因多态性。结果 (1)MTHFR基因C677TSNP有3种基因型:纯合突变(T/T)型、杂合突变(T/C)型和野生突变(C/C)型;(2)精神分裂症患者组T/T型、T/C型、C/C型频率,分别为31.5%、56.8%和11.7%,正常对照组的频率分别为17.9%、57.1%和25%,统计结果显示:两组之间基因型分布存在着显著性差异P<0.05(χ2=6.649,P=0.036);(3)精神分裂症组T等位基因频率为59.9%,C等位基因频率为40.1%;正常对照组T等位基因频率为46.4%,C等位基因频率为53.6%,在精神分裂症组和对照组T等位基因频率分布存在着显著性差异P<0.05(χ2=5.476,P=0.019);(4)精神分裂症组TT基因型频率为32.7%,正常对照组TT基因纯合型频率为17.9%,TT基因纯合型在两组之间分布有显著性差异P<0.05(χ2=4.018,P=0.045)。结论根据对精神分裂症组与正常对照组的MTHFR基因多态性研究得出结论,在中国北方汉族人群中,存在着MTHFR基因的SNP,T等位基因频率在精神分裂症组显著高于正常对照组,MTHFR基因C677T多态性可能是精神分裂症疾病的危险因素之一。该结论可为精神分裂症的病因学研究提供基因学基础,也为该病诊断及预防提供依据。

Study Association of MTHFR C677T Polymorphism and Schizophrenia

Objective To explore the relationship of invasion between the methylenetet rahydrofolate reductase（MTHFR） C677T missense mutation and schizophrenia of Han Nationality in Northen China,to supply genetics found for study etiopathogenisis schizoph-renia,to supply evidence raising the possibility of the use of folate in treatment and prevention.Methods We conducted a case-control study,determined the 677C→T MTHFR genotype distribution in 104 schizophrenia and 56 healthy controls.Results（1）MTHFR gene had three genotype： homozygosis mutation T677T、grew wild mutation C677C and heterozygosis mutation C677T genotype;（2）genotype distribution in schizophrenic were TT（31.5%）、CT（56.8%） and CC（11.7%）,in healthy controls were TT（25%）、CT（57.1%） and CC（17.9%）.genotype significantly distributed（χ2=6.649,P=0.036）,between schizophrenic patients and healthy controls;（3）The MTHFR 677T allele distribution in schizophrenic were 59.9%,in controls were 46.4%,T allele was significantly distributed（χ2=5.476,P=0.019）,between schizophrenic patients and healthy controls.4.The T677T genotype was overrepresented in the total schizophrenic patients（χ2=4.018,P=0.045）.homozygosity for the 677C→T mutation in the MTHFR gene.Conclusion In conclusion,The study demonstrated an association between the MTHFR C677T variant schizophrenia.The T677T genotype was overrepresented in the schizophrenia,677T allele was significantly distributed in schizophrenic patients,the MTHFR 677T allele and T677T genotype might be genetic risk factors for schizophrenia.