Association Of The Single Nucleotide Polymorphism In Introns Of The Matrix Metalloproteinase-3Gene With Susceptibility To Esophageal Squamous Cell Carcinoma

To investigate the genetic association between single nucleotide polymorphism ofthe introns of matrix metalloproteinase3gene and esophageal cancer susceptibility, weselected three high frequency SNPs to be analyzed in the introns of MMP-3according tothe data in NCBI database and HapMap database:8005rs591058(A/G)，12039rs569444(T/C)，10556rs650108(A/G). Extracted genome DNA from five mutualcontrapositive populations: cases of esophageal cancer in Henan, sporadic cases ofesophageal cancer in Hubei, migrants of the high incidence area in Henan and healthycontrols in both Henan and Hubei, peripheral blood with proteinase K method; weregenotyped by PCR-RFLP and analyzed comparatively. It’s the use of SPSS17.0software for multivariate logistic regression analysis of genotyping results andHaploview4.2software for linkage disequilibrium analysis of the three SNPs in thisexperiment.Population sample in this experiment were in line with the Hard-Weinbergequilibrium. Experimental results showed that:(1)10556rs650108(A/G) allele AAand GG, of AA three genotypes of Henan distribution of esophageal population andHenan healthy control population, the Hubei normal control groups and Henan high-riskimmigrant groups in the AA genotype level there were very significant differences (P<0.01, OR>1,1<95%CI,<7), A-gene expression as a dangerous gene. The expressionof G gene in the other control groups was the protective gene.8005rs591058(A/G),12038rs569444(T/C) heterozygous genotype exists in the sick people with the normalpopulation as a significant difference (0.01<P <0.05, OR>1,1<95%<7).(2) Theanalysis of linkage disequilibrium of three genotypes, rs591058, rs569444and rs650108,by Haploview4.2. Calculating the haplotype frequencies, the results showed that thers650108and rs591058between the sick population and healthy population was in asignificant linkage disequilibrium (D ’>0.7, r2<0.33). However, there was no obviouslinkage disequilibrium between rs569444and rs650108, the same as between rs569444and rs591058in sick population and the healthy population.