中国临床药理学杂志2023，Vol.39Issue(23)：3401-3403,3.DOI:10.13699/j.cnki.1001-6821.2023.23.013
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
摘要
Abstract
Objective To explore the correlation between the genetic variations of methylenetetrahydrofolate reductase(MTHFR),transcobalamin Ⅱ(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 VSD CHD(both P＜0.05).Conclusion The occurrence of VSD CHD is closely related to the polymorphisms at MTHFR C677T and TCN2 rs 1801198 loci.关键词
甲基四氢叶酸还原酶/转钴胺素蛋白Ⅱ/叶酸还原载体/室间隔缺损性先天性心脏病/基因多态性Key words
methyltetrahydrofolate reductase/transcobalamin protein Ⅱ/folate reduction vector/ventricular septal defect congenital heart disease/gene polymorphism分类
医药卫生引用本文复制引用
杨瑞琦,胡静,孟迪,刘洋,范丽梅..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[J].中国临床药理学杂志,2023,39(23):3401-3403,3.基金项目
吉林省自然科学基金资助项目(20180101134JC) （20180101134JC）
