Results
| PMID | 19493606 |
| Gene Name | PSMD9 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | p27 (V109G ) |
| Population size | 213 |
| Population details | 213 (104 patients, 109 control subjects) |
| Sex | Female |
| Associated genes | p27 |
| Other associated phenotypes |
Endometriosis |
|
Eur J Obstet Gynecol Reprod Biol. 2009 Aug;145(2):180-3. doi: Camargo-Kosugi, Cintia M| da Silva, Ismael D C G| Sato, Helio| D'Amora, Paulo| Carvalho, Cristina V| Nogueira-de-Souza, Naiara C| Girao, Manoel J C B| Schor, Eduardo Federal University of Sao 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. Mesh Terms: Adult| Case-Control Studies| Cyclin-Dependent Kinase Inhibitor p27/*genetics| Endometriosis/*genetics| Female| Gene Frequency| Genotype| Humans| Middle Aged| Polymorphism, Genetic| Polymorphism, Restriction Fragment Length|DA 2009/10/23 06:00 |
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