早发性精神分裂症核心家系的亚甲基四氢叶酸还原酶基因传递不平衡研究

A family based association study of methylenetetrahydrofolate reductase(MTHFR) gene with early onset schizophrenia

目的:在中国汉族早发性精神分裂症家系中探讨亚甲基四氢叶酸还原酶(MTHFR)基因与精神分裂症的相关性。方法:采用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)技术,检验111个早发性精神分裂症核心家系MTHFR基因A1298C和C677T多态性,并进行连锁不平衡检验(LD)以及传递不平衡检验(TDT)。结果:A1298C及C677T等位基因在父母与先证者间传递差异均无统计学意义(χ2=0.216,P=0.642;χ2=0.143;P=0.706);连锁不平衡检验表明A1298C与C677T之间存在中度连锁不平衡(D'=0.529);单体型TDT显示早发性精神分裂症核心家系中各单体型传递差异均无统计学意义(P>0.05)。结论:MTHFR基因A1298C及C677T多态性与早发性精神分裂症无明显关联。

Objective： To investigate the association between methylenetetrahydrofolate rednctase（MTH- FR）gene and schizophrenia in Chinese early onset schizophrenia schizophrenic family trios. Method：The polymorphisms of MTHFR A1298C and C677T were detected with PCR-RFLP in 111 families trios. The linkage disequilibrium test（ LD ）and transmission disequilibrium test （TDT）were used to analyze the association between MTHFR and the disease. Results：There were no significant differences in alleles frequencies of the SNPs transmitted from the parents to probands（ χ2 = 0. 216 ,P = 0. 642;χ2 = 0. 143, P = 0. 706 ） ;There was a modest linkage disequilibrium between A1298C and C677T（ D＇= 0. 529）;No preferential transimission of haplotypes was observed in the early onset schizoprhenia family trios （ P 〉 0. 05 ）. Conclusion ： No association is found between MTHFR A1298C and C677T polymorphisms and early onset schizophrenia.