Developing a high resolution melting method for genotyping and predicting association of SNP rs353291 with breast cancer in the Vietnamese population

Abstract

Introduction: Breast cancer is the one of the most common types of cancer as well as the second leading cause of cancer death in women in the world. In recent studies, microRNAs (miRNAs) have been demonstrated to play a crucial role as a new potential biomarker in the association with breast cancer. Single Nucleotide Polymorphisms (SNPs) located on specific miRNA may result in breast cancer. Among the SNPs, SNP rs353291 has shown to be associated with breast cancer in individuals of Caucasian background. Furthermore, this SNP is observed in a high percentage of mutant alleles in the Vietnamese population. Thus, SNP rs353291 was selected as a candidate SNP for investigation in this study. The frequency of SNP rs353291 was evaluated by High Resolution Melting (HRM) method, which is a highly powerful method to detect variants in DNA sequence, especially for SNP genotyping. Methods: In this study, the association between this SNP and risk of breast cancer in the Vietnamese population was evaluated in 90 cases and 96 healthy controls via genotyping using an optimized HRM protocol. Result: The genotyping results revealed that SNP rs353291 is a polymorphism in the Vietnamese population. We have successfully identified frequencies of AA, AG and GG to be 40%, 42.2% and 17.8%, respectively. In particular, the calculated frequencies of allele G was 61.1% while risk allele A was 38.9%. The association between this SNP and breast cancer in Vietnam revealed that there is an obvious decreased risk of breast cancer among Vietnamese population when comparing G allele to A allele (G vs A: OR=0.92, 95% CI: 0.62-1.36, p= 0.677); the results also showed that heterozygote model had a reduced risk of breast cancer compared to dominant model (GA+GG vs AA: OR=0.94, 95% CI: 0.52-1.70, p=0.839). Conclusion: However, since the p-values were >0.05, our results only show a correlation rather than a significant association between SNP rs353291 and breast cancer risk in the Vietnamese population.