ArticleBMC cardiovascular disorders2021
Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring.
Article in BMC cardiovascular disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- Association between maternal MTHFR and MTRR gene polymorphisms and the risk of congenital heart disease in newborns.BMC pediatrics · 2026Article
- Congenital heart disease and folate pathway gene polymorphisms: findings from a North Indian cohort.BMC cardiovascular disorders · 2026Article
- Association Study ofCardiology research and practice · 2025Article
- Impact ofReports of biochemistry & molecular biology · 2024Article
- Review
- Association of Maternal Dietary Habits and InfantNutrients · 2024Article
- Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.Italian journal of pediatrics · 2024Article
- Applications of artificial intelligence-powered prenatal diagnosis for congenital heart disease.Frontiers in cardiovascular medicine · 2024Review
- Association of MTR gene polymorphisms with the occurrence of non-syndromic congenital heart disease: a case-control study.Scientific reports · 2023Article
- Noncardiac anomalies in children with congenital heart disease.Frontiers in cardiovascular medicine · 2023Article
- Association of Maternal Dietary Habits andFrontiers in pediatrics · 2021Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough many studies showed that the risk of congenital heart disease (CHD) was closely related to genetic factors, the exact pathogenesis is still unknown. Our study aimed to comprehensively assess the association of single nucleotide polymorphisms (SNPs) of maternal MTHFR gene with risk of CHD and its three subtypes in offspring.
methodsA case-control study involving 569 mothers of CHD cases and 652 health controls was conducted. Thirteen SNPs were detected and analyzed.
resultsOur study showed that genetic polymorphisms of maternal MTHFR gene at rs4846052 and rs1801131 were significantly associated with risk of CHD in the homozygote comparisons (TT vs. CC at rs4846052: OR = 7.62 [95%CI 2.95-19.65]; GG vs. TT at rs1801131: OR = 5.18 [95%CI 2.77-9.71]). And six haplotypes of G-C (involving rs4846048 and rs2274976), A-C (involving rs1801133 and rs4846052), G-T (involving rs1801133 and rs4846052), G-T-G (involving rs2066470, rs3737964 and rs535107), A-C-G (involving rs2066470, rs3737964 and rs535107) and G-C-G (involving rs2066470, rs3737964 and rs535107) were identified to be significantly associated with risk of CHD. Additionally, we observed that a two-locus model involving rs2066470 and rs1801131 as well as a three-locus model involving rs227497, rs1801133 and rs1801131 were significantly associated with risk of CHD in the gene-gene interaction analyses. For three subtypes including atrial septal defect, ventricular septal defect and patent ductus arteriosus, similar results were observed.
conclusionsOur study indicated genetic polymorphisms of maternal MTHFR gene were significantly associated with risk of fetal CHD in the Chinese population. Additionally, there were significantly interactions among different SNPs on risk of CHD. However, how these SNPs affect the development of fetal heart remains unknown, and more studies in different ethnic populations and with a larger sample are required to confirm these findings.
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