Association of progesterone receptor gene polymorphism (PROGINS) with endometriosis, uterine fibroids and breast cancer

Endometriosis, uterine fibroids and breast cancer are female health disorders associated with a great deal of morbidity. Since all these disorders are hormone responsive, our present study has been carried out to identify the association of 306bp Alu insertion polymorphism in intron 7 of progesterone receptor gene (PROGINS). DNA was isolated from the blood samples of 445 Asian Indian women, which included 100 endometriosis, 80 fibroids and 157 cases of breast cancer along with 108 age matched normal healthy women as controls. PROGINS polymorphism was assessed by PCR followed by agarose gel electrophoresis. Results showed that T2 allele frequency is 5%, 10% and 14.6% in endometriosis, uterine fibroids and breast cancer, as compared to 5.5% in controls. This indicates that PROGINS can be considered as a predisposing risk marker for breast cancer but not for endometriosis and uterine fibroids.