Screening of AR Gene CAG Repeat Variations in Iranian Women with Endometriosis

Abstract Background: Endometriosis disease is considered as a common disease dependent on androgen hormones. Androgens have different effects on endometrial growth. Androgen receptor as a signal transduction pathway could have a key role in regulating the process. Over hundreds of mutations leading to resistance gene function in androgen receptor (AR) has been recorded. Among these, the seuaence of CAG repeat in exon 1 had the largest share of studies related to the disease. The aim of the present study was to investigate the relationship between the AR gene CAG repeat variations in Iranian women with endometriosis. Materials and Methods: In this study, 100 women with endometriosis and 100 healthy women as controls were selected. Exon 1 was amplified using PCR. Products of PCR were studied to determine CAG repeat variation in acrylamide gels. Results: The number of CAG repeats in each group was determined between 18-26 repeats (mean±standard, 18.35±3.3). Conclusion: According to the results of this study, no significant differences were found between the two groups of healthy women and women with endometriosis. The number of CAG repeats in each group was determined between 18-26 repeats which indicate a lack of relationship between CAG repeat diversity and endometriosis. According to the information, this study was conducted on patients with endometriosis in Iran for the first time, although studies with larger sample are needed.