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The V109G polymorphism in the p27 gene is associated with endometriosis
Authors:Cíntia M Camargo-Kosugi  Ismael DCG da Silva  Hélio SatoPaulo D’Amora  Cristina V CarvalhoNaiara C Nogueira-de-Souza  Manoel JCB GirãoEduardo Schor
Institution:Federal University of São Paulo/Escola Paulista de Medicina, Gynecology Department, Pelvic Pain and Endometriosis Unit, 04039-032 Sao Paulo, SP, Brazil
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.
Keywords:Polymorphism  Endometriosis  p27
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