GSTO1 uncommon genetic variants are associated with recurrent miscarriage risk

Fertil Steril. 2014 Mar;101(3):735-9. doi: 10.1016/j.fertnstert.2013.12.010. Epub 2014 Jan 10.

Abstract

Objective: To explore the role of the GSTO1 gene in the pathogenesis of recurrent miscarriage (RM).

Design: Genetic association study.

Setting: Rome, Italy.

Patient(s): 123 women with RM and 130 women without pregnancy complications.

Intervention(s): None.

Main outcome measure(s): Genotyping of two single nucleotide polymorphisms (A140D and E208K) and a 3-bp deletion (E155del) of the GSTO1 gene.

Result(s): We found a statistically significant association between GSTO1*E208K variants and RM risk. Specifically, we identified this uncommon genetic variant only in women with RM. None of the women with physiologic pregnancies were carriers of K208 allele.

Conclusion(s): GSTO1 has a role in detoxification metabolism, and we hypothesize that a functional variation of GSTO1 is a RM risk factor that interacts with environmental conditions.

Keywords: Arsenic; GSTO1; ascorbate; genetic predisposition; phase II enzymes; pregnancy loss.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Habitual / diagnosis*
  • Abortion, Habitual / genetics*
  • Adult
  • Female
  • Genetic Association Studies / methods*
  • Genetic Variation / genetics*
  • Glutathione Transferase / genetics*
  • Humans
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Pregnancy
  • Risk Factors
  • Young Adult

Substances

  • GSTO1 protein, human
  • Glutathione Transferase