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Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring

BMC Cardiovascular Disorders Jun 17, 2021

Sun M, Wang T, Huang P, et al. - Researchers conducted this case-control study to comprehensively evaluate the correlation of single nucleotide polymorphisms (SNPs) of maternal MTHFR gene with risk of congenital heart disease (CHD) and its three subtypes in offspring. The sample consisted of 569 mothers of CHD cases and 652 healthy controls. Thirteen SNPs were discovered and studied. The study revealed that genetic polymorphisms of maternal MTHFR gene at rs4846052 and rs1801131 were significantly linked to risk of CHD in the homozygote comparisons. In the Chinese population, genetic polymorphisms in the maternal MTHFR gene were found to be significantly associated with the risk of fetal CHD. Furthermore, there were significant interactions between different SNPs and the risk of CHD. However, it is unclear how these SNPs affect fetal heart development, and more research in different ethnic populations and with larger sample size is needed to confirm these findings.

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