GSTO1 uncommon genetic variants are associated with recurrent miscarriage risk

作者：Polimanti Renato; Graziano Maria Eleonora; Lazzarin Natalia; Vaquero Elena; Manfellotto Dario; Fuciarelli Maria^*

来源：Fertility and Sterility, 2014, 101(3): 735-739.

DOI：10.1016/j.fertnstert.2013.12.010

• Arsenic
• ascorbate
• genetic predisposition
• GSTO1
• pregnancy loss
• phase II enzymes

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.

• 出版日期2014-3