文献类型：期刊文献

英文题名：Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis

作者：Yi, Kang[1,2,3];He, Shao-E[2,4,7];Guo, Tao[1,2,6];Wang, Zi-Qiang[1,2,6];Zhang, Xin[2,10];Xu, Jian-Guo[5];Zhang, Hao-Yue[2,8];Liu, Wei-Guo[2,9];You, Tao[1,2,3]

第一作者：Yi, Kang

通信作者：Yi, K[1];Yi, K[2];Yi, K[3]

机构：[1]Gansu Prov Hosp, Dept Cardiovasc Surg, 204 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China;[2]Gansu Int Sci & Technol Cooperat, Base Diag & Treatment Congenital Heart Dis, Lanzhou, Peoples R China;[3]Gansu Prov Hosp, Struct Heart Ctr, Lanzhou, Peoples R China;[4]Lanzhou Univ, Hosp 1, Dept Gastroenterol, Lanzhou, Peoples R China;[5]Lanzhou Univ, Evidence Based Med Ctr, Sch Basic Med Sci, Lanzhou, Peoples R China;[6]Gansu Univ Chinese Med, Sch Clin Med 1, Lanzhou, Peoples R China;[7]Lianlu Township Hlth Ctr, Linxia, Gansu, Peoples R China;[8]Lanzhou Univ, Clin Med Sch 1, Lanzhou, Peoples R China;[9]Wuwei Liangzhou Hosp, Wuwei, Gansu, Peoples R China;[10]First Hosp Longnan City, Dept Cardiovasc Surg, Longnan, Peoples R China

第一机构：Gansu Prov Hosp, Dept Cardiovasc Surg, 204 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China

通信机构：[1]corresponding author), Gansu Prov Hosp, Dept Cardiovasc Surg, 204 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China;[2]corresponding author), Gansu Int Sci & Technol Cooperat, Base Diag & Treatment Congenital Heart Dis, Lanzhou, Peoples R China;[3]corresponding author), Gansu Prov Hosp, Struct Heart Ctr, Lanzhou, Peoples R China.

年份：2025

卷号：18

期号：1

外文期刊名：BMC MEDICAL GENOMICS

收录：;WOS:【SCI-EXPANDED(收录号:WOS:001407141900001)】；

基金：The authors gratefully acknowledge the financial supports by the Medicine Research Fund Project of Gansu Provincial Hospital (23GSSYF-30) and the Natural Science Foundation of Gansu Province (22JR5RA655).

语种：英文

外文关键词：Heart defects, Congenital; Meta-analysis; Systematic review; Polymorphism, Single nucleotide; Methylenetetrahydrofolate dehydrogenase 1

摘要：BackgroundWe did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of congenital heart diseases (CHD) and its subgroups.MethodsRelevant articles were searched in PubMed, Web of Science, Cochrane Library, Embase, CNKI, VIP database and Wanfang DATA until October 2023. We will use odds ratios (ORs) and 95% confidence intervals (CIs) to examine the potential associations of MTHFD1- G1958A gene polymorphism with CHD and its subgroups.ResultsWe included a total of 9 eligible studies, encompassing 1917 children with CHD, 1863 healthy children, 1717 mothers of the children with CHD and 1666 mothers of healthy children. In our study, the meta-analysis of fetal group revealed no significant association between any of the five genetic models for the MTHFD1-G1958A polymorphism and the risk of CHD. Subgroup analysis showed that associations between the MTHFD1-G1958A polymorphism and Tetralogy of Fallot (TOF) risk in the homozygote model (AA vs. GG, OR = 2.82, 95%CI [1.16, 6.86], P = 0.02) and recessive model (AA vs. GG + GA, OR = 3.09, 95%CI [1.36, 7.03], P = 0.007). In addition, the MTHFD1-G1958A polymorphism was associated with the risk of CHD in racial subgroup, increasing the risk of CHD in Caucasians. In maternal analysis, 2 genetic models of MTHFD1-G1958A polymorphism increased the risk of CHD: the heterozygote model (GA vs. GG, OR = 1.22, 95%CI [1.04, 1.42], P = 0.01), and the dominance model (GA + AA vs. GG, OR = 1.17, 95%CI [1.01, 1.34], P = 0.03).ConclusionsThe fetal MTHFD1-G1958A (rs2236225) gene polymorphism increase their risk of TOF. The maternal MTHFD1-G1958A polymorphism has a strong correlation with the risk of CHD, and there are racial differences in this correlation. Compared with GG genotype, the GA genotype increases the risk of CHD.