GSTO1 Uncommon Genetic Variants Are Associated with Recurrent Miscarriage Risk

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.