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.