The V109G polymorphism in the p27 gene is associated with endometriosis

• Published in: European journal of obstetrics & gynecology and reproductive biology 2009-08, Vol.145 (2), p.180-183
• Main Authors: Camargo-Kosugi, Cíntia M, da Silva, Ismael D.C.G, Sato, Hélio, D’Amora, Paulo, Carvalho, Cristina V, Nogueira-de-Souza, Naiara C, Girão, Manoel J.C.B, Schor, Eduardo
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Case-Control Studies; Cyclin-Dependent Kinase Inhibitor p27 - genetics; Endometriosis; Endometriosis - genetics; Female; Female genital diseases; Gene Frequency; Genotype; Gynecology. Andrology. Obstetrics; Humans; Medical sciences; Middle Aged; Non tumoral diseases; Obstetrics and Gynecology; p27; Polymorphism; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length
• ISSN: 0301-2115; 1872-7654
• DOI: 10.1016/j.ejogrb.2009.04.027

Abstract 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.