Initial determination of the association between SNP rs3937033 on the D-LOOP mtDNA and breast cancer in Vietnam

Abstract

Breast cancer (BC) is the most common cancer among women and accounts for the highest mortality rates in the developing countries, including Vietnam. D-loop, is a non-coding region in mitochondrialcircular DNA molecules, related to control the replication and transcription of mitochondrial genes. D-loop mutations cause the dysfunction of the respiratory chain, which contributes to the process of BC. SNP rs3937033 (T/C) on D-loop was reported to have the association with BC in Europe America population (OR [95%CI]= 1.98 [1.25–3.12], P=0.036), and Caucasian (OR[95%CI]= 21 [2.15–204.6], P=0.003). In this study, the High Resolution Melting (HRM) method is optimized for genotyping 100/100 cases/controls samples, then to determine the association between the disease and this SNP. TT, TC and CC genotype frequencies in patient group (36 %, 3 % and 61 %) and control group (23 %, 1 % and 76 %) were calculated based on the results of genotyping by optimal HRM method with the annealing temperature is 66 0C. Association analysis result showed that T allele increases the risk of breast cancer patients up to 1.41 times (OR [95% CI] = 1.41 [1.3-1.92], Pallele = 0.03). Therefore, SNP rs3937033 could be a potential biomarker for early BC diagnosis in Vietnamese. However, this research needs to be conducted with a larger sample size to reach the greater confidence.