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Open Access Highly Accessed Research article

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

José Juvenal Linhares12*, Marcos Azevedo2, Adalberto Abraão Siufi2, Cristina Valleta de Carvalho23, Maria Del Carmen Garcia Molina Wolgien2, Emmanuelle Coelho Noronha2, Tatiana Carvalho de Souza Bonetti24 and Ismael Dale Cotrim Guerreiro da Silva2

Author Affiliations

1 Department of Gynecology and Obstetrics, Federal University of Ceará (Campus Sobral), Av. Humberto Lopes, 200, Junco, Sobral, Ceará, CEP: 62022-304, Brazil

2 Molecular Gynecology Laboratory, Department of Gynecology, Federal University of São Paulo, Rua Pedro de Toledo, 781 – 4o. Floor, Vila Clementino, São Paulo-SP, CEP: 04039-032, Brazil

3 Biology Department, Centro Universitário Fundação Santo André, São Paulo-SP, Brazil

4 Reproductive Biology Research Laboratory, Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of South Florida – USF, MDC 2147, 12901 Bruce B Downs Blvd, Tampa, FL, 33612, USA

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BMC Medical Genetics 2012, 13:119  doi:10.1186/1471-2350-13-119

Published: 10 December 2012

Abstract

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 X2 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 (χ2: 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.

Keywords:
Breast; Cancer; Polymorphisms; MicroRNAs