Association Of The Single Nucleotide Polymorphisms Of HRFT Genes With Susceptibility To Hazakh's Esophageal Cancer In XinJiang

Objective:To investigate the association of genetic susceptibility to Hazakh esophageal squamous cell carcinoma (ESCC) with the single nucleotide polymoiphism (SNP) of Human riboflavin transporter (hRFT) genes.Methods:Using the matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) analysis to detect the polymorphism of hRFT genes in 197 cases of Hazakh's esophageal squamous cell carcinomas(ESCC),217 cases of normal control; all the statistical analysis has been done by SPSS 13.0 software package.Results:(1) Genotype G/G,A/G,A/A frequencies of hRFT1 rs346821 between ESCC patients and healthy controls had significant difference (p=0.000); allele G,A frequencies between ESCC patients and healthy controls had significant difference (p=0.000), Genotype C/C,C/T,T/T frequencies of hRFTl rs410520 between ESCC patients and healthy controls had significant difference (p=0.018)., Genotype G/G,G/A,A/A frequencies of hRFT1 rs2304445 between ESCC patients and healthy controls had significant difference (p=0.033); allele G,A frequencies between ESCC patients and healthy controls had significant difference (p=0.047). (2) Genotype A/A,A/G,G/G frequencies of hRFT1 rs346821 between ESCC patients and healthy controls significant difference (p=0.000); allele A,G frequencies between ESCC patients and healthy controls had significant difference (p=0.027). (3) hRFT1 gene SNP site rs410520,rs346820,rs346821,rs2304445 exist linkage disequilibrium, haplotype CCGG,CCGA,TCAG,TCAA are protective factor, the haplotype CCAA,TTGG are risk factor; hRFT2 gene SNP site rs3746805,rs3746808,rs13042395,rs6140125,rs910857 exist linkage disequilibrium, haplotypes AACCA,AACAG,GGCCG,GACA are protective factor, haplotype AGCCA,AACCG,GGTAG are risk factor.Conclusions:(1) SNP site rs436821,rs410520,rs2304445 of the hRFTl gene and rs910857 of the hRFT2 gene may be associated with susceptibility to Hazakh ESCC; (2) SNP site of hRFTl gene and HRFT2 gene exist linkage disequilibrium haplotype CCAA,CCGG,CCGA,TTGG,TCAG,TCAA of hRFT1, haplotype AGCCA,AGCCG,AACCG,GGTAG,AACCA,AACAG,GGCCG,GACAG of hRFT2 may be associated with susceptibility to Hazakh ESCC.