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Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
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[Association between maternal reduced folate carrier gene polymorphisms and congenital heart disease in offspring: a

Jia-Bi Qin1, Xiao-Qi Sheng, Ting-Ting Wang

  • 1Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Guangzhou 510100, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|June 16, 2021
PubMed

Insights

Maternal genetic variations in the reduced folate carrier (RFC) gene are linked to an increased risk of congenital heart disease (CHD) in infants. Gene interactions also play a significant role in CHD development.

Area of Science:

  • Genetics
  • Pediatrics
  • Molecular Biology

Background:

  • Congenital heart disease (CHD) is a significant global health concern in newborns.
  • The role of maternal genetic factors, specifically gene polymorphisms, in CHD etiology requires further investigation.
  • The reduced folate carrier (RFC) gene is crucial for folate transport, essential for fetal development.

Purpose of the Study:

  • To investigate the association between maternal reduced folate carrier (RFC) gene polymorphisms and the risk of congenital heart disease (CHD) in offspring.
  • To explore potential gene-gene interactions among RFC gene single nucleotide polymorphisms (SNPs) in relation to CHD risk.

Main Methods:

  • A hospital-based case-control study involving 683 infants with CHD and 740 healthy controls.
  • Maternal venous blood samples were collected for genetic polymorphism detection using logistic regression analysis.
  • Generalized multifactor dimensionality reduction was employed to analyze gene-gene interactions.

Main Results:

  • Maternal RFC gene polymorphisms at rs2236484 and rs2330183 were significantly associated with an increased risk of CHD.
  • Specific RFC haplotypes (G-G and T-G) in mothers were linked to a higher risk of CHD in their offspring.
  • Significant gene-gene interactions between RFC gene SNPs were observed in relation to CHD development.

Conclusions:

  • Maternal RFC gene polymorphisms are significantly associated with the risk of congenital heart disease in offspring.
  • Interactions between different single nucleotide polymorphisms (SNPs) within the RFC gene contribute to CHD risk.
  • These findings highlight the importance of maternal genetic factors in CHD etiology.
Abstract

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