Genotyping and estimating the frequency of SNP rs1544410 (or Bsm1) on VDR Gene in Vietnamese breast cancer patients

Abstract

Breast cancer is the most popular cancer and acknowledged as the second cause of death in women worldwide. There are several factors can affect the risk of breast cancer, including extrinsic factors (weight, smoking status, birth size,…) and intrinsic factors (genetics factors, for instance). In the recent years, Vitamin D polymorphisms (VDR) have been studied widely to demonstrate the association between them and risk of breast cancer, however, the mechanism is still unclear. Bsm1 (rs1544410), which is considered as one of the most popular single nucleotide polymorphisms (SNP) in VDR gene, varies in both frequency and the way it associates with breast cancer risk in a defined population. These properties make SNP Bsm1 becomes specific for each ethnic group even for Vietnamese. Thus, within the scope of this research, the frequency of SNP Bsm1 is estimated by performing High Resolution Melting (HRM) technique, which is a high sensitivity, rapid, cost-reducing and simple one, in order to analyze the association between this SNP and risk of breast cancer in Vietnamese breast cancer patients. This study performed in 50 cases of Vietnamese breast cancer patients and 50 controls from healthy persons. And the result shows that all of samples have only one genotype at this SNP. In conclusion, based on the result of genotyping 100 samples, we see that SNP Bsm1 is monomorphism in Vietnamese. Due to a small sample size, a further study, which performs in larger and more reliable sample size, is required to confirm this monomorphism situation. However, if it is polymorphisms in a bigger sample size study but the frequency of SNP allele is too low (smaller than 1%), this SNP will not recommend to become a candidate for further association study and also not to use as biomarker for breast cancer early diagnosis as its contribution in alter the risk of breast cancer is very low. Keywords: Vitamin D polymorphisms Bsm1 (rs1544410) High resolution melting (HRM)