Association of G1057D variant of insulin receptor substrate-2 with endometriosis.

Objective: To investigate whether the insulin receptor substrate (IRS)-2 G1057D polymorphism is associated with the risk of endometriosis, and to evaluate potential correlation of IRS2 gene polymorphism with the stages of endometriosis.

Design: Case-control study.

Setting: Gynecology clinics in university hospital.

Patient(s): Women with (n = 135) or without (n = 135) endometriosis. Afterward, the women with endometriosis were divided into two groups according to the stage: group 1 included 63 women in stages I-II, and group 2 included 72 women in stages III-IV.

Intervention(s): Genotyping by polymerase chain reaction-based restriction fragment-length polymorphism method.

Main Outcome Measure(s): Genotype distribution of the G1057D polymorphism in the IRS2 gene.

Result(s): The genotype distribution of the IRS2 G1057D polymorphism in the endometriosis group was significantly different from that of the control group (GG/GD/DD rates were 43.0%/39.3%/17.7% and 55.6%/36.3%/8.1% for the endometriosis and control groups, respectively). Further subgroup analyses according to the stage of endometriosis also revealed a positive association between the IRS2 DD genotype expression and stage III-IV endometriosis patients in the population studied.

Conclusion(s): These results suggest that the IRS2 G1057D polymorphism may be associated with an increased risk for endometriosis.