RESUMO
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.
Assuntos
Inibidor de Quinase Dependente de Ciclina p27/genética , Endometriose/genética , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Humanos , Pessoa de Meia-Idade , Polimorfismo Genético , Polimorfismo de Fragmento de RestriçãoRESUMO
OBJECTIVE: To evaluate the association of intron 1 and exon 1 polymorphisms in the estrogen receptor alpha gene (ER-alpha) with endometriosis in women. DESIGN: Association study. SETTING: Endometriosis Unit, Federal University of São Paulo. PATIENT(S): The control group consisted of volunteers older than 45 years who had no evidence of endometriosis antecedents. Two groups with the disease were evaluated: the first group had stage I or II endometriosis and the second group stage III or IV. INTERVENTION(S): Polymerase chain reaction (PCR) followed by digestion with HaeIII and MspI endonucleases (RFLP) were applied to detect intron 1 and exon 1 polymorphisms, respectively, in a total of 125 controls and 105 affected women. MAIN OUTCOME MEASURE(S): Frequency and distribution of HaeIII and MspI polymorphisms in ER-alpha. RESULT(S): No significant differences in the frequency of polymorphisms either in intron 1 or exon 1 of ER-alpha were found when endometriosis patients were compared with control subjects. Furthermore, the frequency of ER-alpha polymorphisms within the two different groups of patients with disease was statistically similar. The odds ratio between presence of intron 1 single-nucleotide polymorphisms (SNP) and endometriosis was 0.904, and the odds ratio between exon 1 SNP and endometriosis was 0.976. CONCLUSION(S): The evaluated polymorphisms were not associated with endometriosis.
Assuntos
Endometriose/genética , Receptor alfa de Estrogênio/genética , Éxons , Íntrons , Polimorfismo de Nucleotídeo Único , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Razão de Chances , Medição de RiscoRESUMO
OBJECTIVES: In this study, the authors analyzed the immunoexpression of p16 in high-risk human papillomavirus DNA-negative normal and nonneoplastic cervical epithelia, in low-grade cervical intraepithelial neoplasia (CIN), high-grade CIN, and squamous cell carcinoma. MATERIALS AND METHODS: A retrospective study, in which 58 normal cervical hysterectomy samples, 56 nonneoplastic cervical biopsies, 88 CIN 1, 33 CIN 2, 32 CIN 3, and 47 invasive squamous cell carcinoma biopsies, were evaluated for p16 immunoexpression. Human papillomavirus tests were also performed. RESULTS: p16 immunohistochemistry seems to reveal possible different biological subgroups of lesions among morphologically similar mildly dysplastic cervical epithelia. CONCLUSION: Distribution patterns of p16 protein might be useful to predict different outcomes in CIN 1.
Assuntos
Biomarcadores Tumorais/análise , Carcinoma de Células Escamosas/química , Inibidor p16 de Quinase Dependente de Ciclina/análise , Displasia do Colo do Útero/química , Neoplasias do Colo do Útero/química , Biomarcadores Tumorais/imunologia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/virologia , Colo do Útero/química , Inibidor p16 de Quinase Dependente de Ciclina/imunologia , DNA Viral/análise , Células Epiteliais/química , Feminino , Papillomavirus Humano 16/genética , Papillomavirus Humano 18/genética , Humanos , Imuno-Histoquímica , Invasividade Neoplásica , Estadiamento de Neoplasias , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Displasia do Colo do Útero/patologia , Displasia do Colo do Útero/virologia , Displasia do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/virologiaRESUMO
Due to the conflicting results regarding the association between breast cancerand the GSTM1 null mutation, our aim was to research this associationin a Brazilian population and correlations withsmoking, reproductive history and several clinical pathologies. A case-control study was performed on 105 women with breast cancer and 278 controls. Extraction of DNA was accomplished according to the protocol of the GFX© kit and polymorphism analysis by the PCR technique. The control and experimental groups were compared and statistical analysis assessed by Xy or Fisher's exact test. The deletion in the GSTM1 gene in the breast cancer group had a prevalence of 32 (30.4 percent) individuals with the presence of null mutation. In the control group, the null mutation was present in 104 (37.4 percent) women. Upon comparison of the two groups, no statistically significant difference of the GSTM1 gene was observed, with an odds ratio (OR) of 0.74, 95 percent, confidence interval (CI) 0.45 - 1.20, p = 0.277. The results conclusively show that singlegene GSTM1 polymorphisms do not confer a substantial risk of breastcancer to its carriers. Furthermore, in this study no correlation was found between GSTs andsmoking, reproductive history and several clinical pathologies with respect to cancer risk.