Evaluation of single nucleotide polymorphisms in microRNAs (hsa-miR-196a2 rs11614913 C/T) from Brazilian women with breast cancer
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
BMC Medical Genetics 2012, 13:119 doi:10.1186/1471-2350-13-119Published: 10 December 2012
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.
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.
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.
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.