Results
| PMID | 19878940 |
| Gene Name | IRS2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | IRS2 (G1057D) |
| Population size | 270 |
| Population details | 270 (135 women with endometriosis (63 women in stages I-II endometriosis, 72 women in stages III-IV), 135 women without endometriosis) |
| Sex | Female |
| Associated genes | IRS2 |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2010 Oct;94(5):1622-6. doi: 10.1016/j.fertnstert.2009.09.023. Epub Cayan, Filiz| Ertunc, Devrim| Aras-Ates, Nurcan| Ayaz, Lokman| Akbay, Esen| Karakas, Sevim| Coban, Ozgur| Dilek, Saffet Department of Obstetrics and Gynecology, University of Mersin School of Medicine, Mersin, Turkey. filizcayan@yahoo.com 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. Mesh Terms: Adult| Case-Control Studies| Endometriosis/*genetics| Female| Genetic Predisposition to Disease/genetics| Genotype| Humans| Insulin Receptor Substrate Proteins/*genetics| Middle Aged| Polymorphism, Genetic/*genetics| Risk Factors| Severity of I |
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