GSTO1 uncommon genetic variants are associated with recurrent miscarriage risk.

To explore the role of the GSTO1 gene in the pathogenesis of recurrent miscarriage (RM). Genetic association study. Rome, Italy. 123 women with RM and 130 women without pregnancy complications. None. Genotyping of two single nucleotide polymorphisms (A140D and E208K) and a 3-bp deletion (E155del) of the GSTO1 gene. 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. 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.