Related Experiment Video
Updated: Jun 22, 2026

Establishment of an Experimental Mouse Model of Endometrioma to Study its Related Infertility
Published on: April 5, 2024
The V109G polymorphism in the p27 gene is associated with endometriosis
Cíntia M Camargo-Kosugi1, Ismael D C G da Silva, Hélio Sato
1Federal University of São Paulo, Escola Paulista de Medicina, Gynecology Department, Sao Paulo, SP, Brazil.
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.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Abnormal Proliferation
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Oogenesis
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pleiotropy
