Association of a single nucleotide polymorphism in the multi-drug resistance 1 gene (mdr1) and squamous cell carcinoma of esophagus

Esophageal cancer (EC) is among the leading causes of cancer death in the developing countries. It has been reported that smoking, alcohol consumption, hot tea drinking poor oral hygiene, lowsocioeconomic status, and genetic variants are related to a higher risk of esophageal squamous cell carcinoma (ESCC). Particularly ATP-binding cassette superfamily (ABC) is involved in transferringdrugs, detoxification, regulation of protein synthesis, and cell resistance. Rs2032582, which is a triallelic missense variant on ABCB1 gene, has reported being associated with drug resistance. Here weexplored the association of ABCB1 rs2032582 with ESCC for the first time in 314 subjects, with and without ESCC. DNA was extracted from samples and genotyped by TaqMan real-time PCR. Toevaluate deviations from Hardy- Weinberg Equilibrium (HWE) genotypes and alleles frequencies of ABCB1/MDR1 rs2032582 were analyzed by Pearson χ distribution. Our data showed that ESCC patients had a higher frequency of a T/A (TT/TA/AA) genotypes for rs2032582 than individuals with GG-genotype. There were no associations between patients BMI, familial history and genotypic frequencies. We demonstrated the significant association of ABCB1 rs2032582-T/A genotypes with ESCC. However further studies with larger sample sizes are needed to substantiate our findings

Keywords:

Cell and Cancer , Cancer Risks , Cancer Genetics , Cancer Treatment and Management , Drugs and Cancer