The V109G polymorphism in the p27 gene is associated with endometriosis

OBJECTIVE: To investigate the prevalence of the p27 gene polymorphism in women with endometriosis. STUDY DESIGN: Transversal case-control study. Genomic DNA was extracted from cells collected from buccal swabs. The p27 V109G polymorphism was investigated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in a hospital-based Brazilian population. RESULTS: We analysed the 104 patients and 109 control subjects. The distribution of genotype and allele frequencies of p27 V109G polymorphism was significantly different between the endometriosis cases and healthy women (p=0.016 and 0.002). Women who had at least one mutated allele presented twofold chances for endometriosis development (OR=1.9; 95% CI, 1.120-3.343). CONCLUSION: The polymorphic variant at codon 109 of the p27 gene seems to be associated with higher risk of endometriosis development.