Association of the CYP17 gene polymorphism with the risk of advanced endometriosis in Korean women

Objective: To investigate whether polymorphism of CYP17 gene is associated with the risk of advanced endometriosis in Korean women. Methods: The 194 endometriosis patients and 209 controls were enrolled. Blood samples were collected from 194 patients with endometriosis stages III and IV diagnosed by both pathologic and laparoscopic findings. The women undergoing laparoscopic surgery or laparotomy for non-malignant lesions were included in the control group. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of PCR products were done to determine all individuals’ genotype. Results: The heterozygous allele in CYP17 gene was most common genotypes in both endometriosis and healthy control groups (54.6% vs. 38.8%). In women with heterozygous A1/A2 genotype, there was increased endometriosis risk and this difference was statistically significant (p