Correlation analysis of the genetic variants of MTHFR,TCN2 and RFC genes and risk of congenital heart disease with ventricular septal defect
10.13699/j.cnki.1001-6821.2023.23.013
- VernacularTitle: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
- Author:
Rui-Qi YANG
1
;
Jing HU
;
Di MENG
;
Yang LIU
;
Li-Mei FAN
Author Information
1. 吉林大学第二医院妇产科,吉林长春 130000
- Keywords:
methyltetrahydrofolate reductase;
transcobalamin protein Ⅱ;
folate reduction vector;
ventricular septal defect congenital heart disease;
gene polymorphism
- From:
The Chinese Journal of Clinical Pharmacology
2023;39(23):3401-3403
- CountryChina
- Language:Chinese
-
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.
