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Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect

Qian-Nan Guo1,2,3, Hong-Dan Wang1,3, Li-Zhen Tie4

  • 1The Medical Genetic Center, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou 450000, China.

Biomed Research International
|August 1, 2017
PubMed

Insights

Parental MTHFR 677C>T gene variants are linked to non-ventricular septal defect (VSD) congenital heart defects (CHD), while MTRR 66A>G variants are associated with fetal VSD. These findings clarify genetic links in CHD etiology.

Area of Science:

  • Genetics
  • Developmental Biology
  • Public Health

Background:

  • Congenital heart defect (CHD) is a leading cause of birth defects globally.
  • MTHFR and MTRR genes are implicated in fetal CHD, but their specific roles remain unclear.
  • Genetic variations in MTHFR and MTRR may influence CHD susceptibility.

Purpose of the Study:

  • To investigate the parental genetic effects of MTHFR and MTRR polymorphisms on fetal CHD.
  • To analyze the association of MTHFR 677C>T, MTHFR 1298 A>C, and MTRR 66A>G polymorphisms with fetal CHD subtypes.

Main Methods:

  • Case-control study involving parents of fetuses with CHD (VSD and non-VSD groups) and control parents.
  • Genotyping of MTHFR 677C>T (rs1801133), MTHFR 1298 A>C (rs1801131), and MTRR 66A>G (rs1801394) polymorphisms using sequencing.
  • Statistical analysis to determine the association between polymorphisms and CHD subtypes.

Main Results:

  • MTHFR 677C>T polymorphism in either parent was significantly associated with non-VSD fetal CHD (P < 0.05).
  • MTRR 66A>G polymorphism in either parent was significantly associated with fetal VSD (P < 0.05).
  • No significant association was found for the MTHFR 1298 A>C polymorphism with either CHD subtype.

Conclusions:

  • Parental MTHFR 677C>T polymorphism is independently linked to fetal non-VSD.
  • Parental MTRR 66A>G polymorphism is independently linked to fetal VSD.
  • These specific gene polymorphisms play distinct roles in the development of different types of fetal CHD.
Abstract

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