Polymorphism of Riboflavin Transporter (RFVT) Gene in Patients with Esophageal Cancer in Hakka Population in Southern China

Background: The aim of this study was to examine the human riboflavin transporter (RFVT) gene polymorphism in Hakka esophageal cancer patients in Guangdong Province and to explore its relationship with esophageal cancer . Methods: : We used matrix-assisted laser desorption ionization flight time mass spectrometry to genotype RFVT1 rs346821 and RFVT2 rs13042395 in 211 Hakka esophageal cancer patients and 216 healthy controls in Meizhou. Results: : There were polymorphisms in the rs346821 and rs13042395 in the two groups of Hakka; G/A polymorphism in the RFVT1 gene rs346821; three genotypes GG, AG, and AA of RFVT rs346821 were found in the Meizhou Hakka population, with distribution frequencies in the esophageal cancer group at 61.61, 36.02, and 2.37% respectively; the frequencies of allele G and A were 79.62 and 20.38%. The distribution frequencies of the three genotypes in the control subjects were 54.17, 40.28, and 5.55% respectively; the frequencies of allele G and A were 74.31 and 25.69%. There was a significant difference observed in the binary logistic analysis; the occurence of AG and AA genotypes in the Hakka population were 2.424 times and 1.922 times higher than that of the GG genotype. Bioinformatics analysis revealed that RFVT1 rs346821 had a missense mutation, and the corresponding amino acid was changed from alanine to valine, resulting in a change in its protein structure. Conclusions: : The study concluded that RFVT1 rs346821 polymorphism might be associated with the genetic susceptibility of the Hakka population to esophageal cancer. The variation in the protein structure resulting from the variation of RFVT1 rs346821 might have a significant influence on the occurrence and development of esophageal cancer in the Hakka population.