Evaluation of single nucleotide polymorphisms in microRNAs (hsa-miR-196a2 rs11614913 C/T) from Brazilian women with breast cancer

Background: Emerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphisms (SNPs) located in pre-miRNAs may affect the processing and therefore, influence the expression of mature miRNAs. Previous studies generated conflicting results when reporting association between the hsa-miR-196a2 rs11614913 common polymorphism and breast cancer.Methods: This study evaluated the hsa-miR-196a2 rs11614913 SNP in 388 breast cancer cases and 388 controls in Brazilian women. Polymorphism was determined by real-time PCR; control and experimental groups were compared through statistical analysis using the X-2 or Fisher's exact tests.Results: the analysis of the SNPs frequencies showed a significant difference between the groups (BC and CT) in regards to genotype distribution (chi(2): p = 0.024); the homozygous variant (CC) was more frequent in the CT than in the BC group (p = 0.009). the presence of the hsa-miR-196a2 rs11614913 C/T polymorphism was not associated with histological grades (p = 0.522), axillary lymph node positive status (p = 0.805), or clinical stage (p = 0.670) among the breast cancer patients.Conclusions: the results of this study indicated that the CC polymorphic genotype is associated with a decreased risk of BC and the presence of the T allele was significantly associated with an increased risk of BC.Univ Fed Ceara, Dept Gynecol & Obstet, BR-62022304 Sobral, Ceara, BrazilUniversidade Federal de São Paulo, Mol Gynecol Lab, Dept Gynecol, BR-04039032 São Paulo, BrazilCtr Univ Fundacao Santo Andre, Dept Biol, São Paulo, BrazilUniv S Florida, Reprod Biol Res Lab, Div Reprod Endocrinol & Infertil, Dept Obstet & Gynecol, Tampa, FL 33612 USAUniversidade Federal de São Paulo, Mol Gynecol Lab, Dept Gynecol, BR-04039032 São Paulo, BrazilWeb of Scienc

The V109G polymorphism in the p27 gene is associated with endometriosis

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% Cl, 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. (C) 2009 Elsevier Ireland Ltd. All rights reserved.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Universidade Federal de São Paulo, Escola Paulista Med, Dept Gynecol, Pelv Pain & Endometriosis Unit, BR-04039032 São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Gynecol, Pelv Pain & Endometriosis Unit, BR-04039032 São Paulo, BrazilFAPESP: 06.58214-2Web of Scienc