Abstract

Purpose: To investigate the relationship between miR-499 rs3746444 and miR-196a rs11614913 polymorphisms, and susceptibility to breast cancer in an Iranian population. Methods: This case-control study was performed on a population of 200 subjects comprising 100 breast cancer patients (case/observation group) and 100 healthy individuals (control group). Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was used to genotype these polymorphisms. P-values and odd ratios were determined, and p-values 1 were considered statistically significant. Results: There were no significant differences between observation and control groups with respect to rs11614913 T/C polymorphism. The rs11614913 T allele was not identified as a risk factor for susceptibility to breast cancer (OR = 0.86, 95 % CI = 0.85 - 1.3, p = 0.46). However, there were significant differences between observation and control groups with respect to rs3746444 T/C polymorphism. It was observed that cytosine-cytosine (CC) (OR = 4.5, 95 % CI = 1.3 - 15.4, p = 0.06), and cytosine-thymine (CT) (OR = 1.9, 95% CI = 1- 3.6, p = 0.04) genotypes had protective influence against susceptibility to breast cancer. Conclusion: These results indicate that CC and CT genotypes are associated with reduced risk of breast cancer. In particular, the presence of C allele is significantly associated with a low risk of breast cancer. These findings may provide useful information for prevention and early diagnosis of breast cancer. Keywords: Breast cancer, Early diagnosis, miR-196a rs11614913, miR-499 rs3746444, Polymorphism, ARMS-PCR

Highlights

  • Breast cancer is the most common malignancy among women: about one million new patients are added annually to the world population of female breast cancer patients

  • There were no significant differences in rs11614913 T/C polymorphism between the breast cancer patients and controls

  • MiR196a rs11614913 T/C polymorphism was not identified as a risk/protection factor for susceptibility to breast cancer

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Summary

INTRODUCTION

Breast cancer is the most common malignancy among women: about one million new patients are added annually to the world population of female breast cancer patients. Several miRNAs are abnormally expressed in breast cancer tissue when compared with normal breast tissue Several studies have recognized genetic variants in the precursor miRNA sequence of miR-499 rs3746444 as possible biomarkers related to the etiology of breast cancer [5]. There are a few molecular and epidemiological studies on the association between breast cancer and polymorphisms in miR-499 rs3746444 and miR-196a rs11614913 [6]. To the best of our knowledge, there are no reports on the association between miR-196a rs11614913 and miR-499 rs3746444 polymorphisms, and the risk of breast cancer in an Iranian population. In order to investigate if such association exist, a hospital-based case-control study on an Iranian population was carried out in this study, based on genotyping analysis applying amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) assay. Values of OR > 1, and p values < 0.05 were considered statistically meaningful, indicating the effect of allele distribution on breast cancer probability

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