MTHFR,TCN2,RFC基因的遗传变异与室间隔缺损性先天性心脏病发生风险相关性分析

Correlation analysis of the genetic variants of MTHFR,TCN2 and RFC genes and risk of congenital heart disease with ventricular septal defect

目的 探索甲基四氢叶酸还原酶(MTHFR)、转钴胺素蛋白Ⅱ(TCN2)、叶酸还原载体(RFC)基因的遗传变异与儿童室间隔缺损性先天性心脏病(CHD)发生率之间的相关性。方法 选取室间隔缺损性CHD患儿为试验组,选取同期在我院进行体检的健康儿童作为对照组。用聚合酶链反应法检测MTHFR C677T、MTHFR A1298C、TCN2 rs1801198、RFC rs1051266多态性,并用二元逻辑回归分析上述基因多态性与CHD之间的关系。结果 试验组和对照组各纳入108例。试验组和对照组的MTHFR C677T位点TT比例分别为44.44%和19.44%,MTHFR A1298C位点CC比例分别为51.85%和37.04%,TCN2 rs1801198位点GG比例分别为55.56%和33.33%,差异均有统计学意义(均P<0.05)。二元回归分析表明,MTHFR C677T和TCN2 rs1801198位点的多态性是室间隔缺损性CHD的危险因素(均P<0.05)。结论 室间隔缺损性CHD的发生与MTHFR C677T和TCN2 rs1801198位点多态性息息相关。

Objective To explore the correlation between the genetic variations of methylenetetrahydrofolate reductase(MTHFR),transcobalaminⅡ(TCN2),and reduced folate carrier(RFC)genes and the incidence of ventricular septal defect(VSD)congenital heart disease(CHD)in children.Methods Children with VSD CHD were selected as the treatment group,and healthy children who underwent physical examination in our hospital during the same period were selected as the control group.Detection of the MTHFR C677T,MTHFR A1298C,TCN2 rs1801198,RFC rs1051266 polymorphisms were performed by the polymerase chain reaction.Binary logistic regression was used to analyze the relationship between CHD and the above gene polymorphisms.Results A total of 108 cases were included in both the treatment and control groups.The proportions of TT at MTHFR C677T locus in the treatment and control groups were 44.44%and 19.44%,CC at MTHFR A1298C locus were 51.85%and 37.04%,GG at TCN2 rs1801198 locus were 55.56%and 33.33%,with statistically significant differences(all P<0.05).Binary regression analysis showed that the polymorphisms at MTHFR C677T and TCN2 rs1801198 were risk factors for V SD CHD(bothP<0.05).Conclusion The occurrence of VSD CHD is closely related to the polymorphisms at MTHFRC 677T and TCN2 rs1801198 loci.