MTHFR 677 C>T Gene Polymorphism is Associated with Large for Gestational Age Infants

Raziye Akcılar1, Emine Esin Yalınbaş2, Fezan Mutlu3

  • 1Faculty of Medicine, Department of Physiology, Kütahya Health Sciences University, Kütahya, Turkey.

PubMed

Insights

The methylenetetrahydrofolate reductase (MTHFR) gene variant is linked to higher birth weight in infants. This MTHFR 677C>T polymorphism may indicate a higher risk for large for gestational age infants.

Area of Science:

  • Genetics
  • Neonatal Health
  • Molecular Biology

Background:

  • Investigating the methylenetetrahydrofolate reductase (MTHFR) 677C>T gene polymorphism.
  • Examining its association with birth size in term infants: small (SGA), appropriate (AGA), and large (LGA) for gestational age.

Purpose of the Study:

  • To determine the role of the MTHFR 677C>T gene polymorphism in term infants.
  • To assess the association between MTHFR genotypes and birth weight categories (SGA, AGA, LGA).

Main Methods:

  • Genotyping of MTHFR 677C>T polymorphism in 165 newborns.
  • DNA isolation from peripheral blood samples.
  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique used for genotyping.

Main Results:

  • Significant differences in genotype and allele distribution were observed among AGA, SGA, and LGA groups.
  • Newborns with the MTHFR 677 TT genotype exhibited higher birth weights compared to CC and CT genotypes.
  • The MTHFR 677 TT genotype and T allele were more frequent and associated with increased risk in LGA infants compared to AGA infants.

Conclusions:

  • The MTHFR 677C>T gene polymorphism can serve as a genetic marker for identifying Turkish infants who are large for gestational age (LGA).
  • This polymorphism was not found to be a significant marker for small for gestational age (SGA) infants.
Abstract

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