Association Of The Single Nucleotide Polymorphisms In The Human Phospholipase C,epsilon1Gene And Matrix Metalloproteinase Inhibitors2Gene With Susceptibility To Esophageal Squamous Cell Carcinoma

To investigate the genetic association between single nucleotide polymorphism ofphospholipase C epsilon-1gene、matrix metalloproteinase inhibitors2gene andesophageal cancer susceptibility， two SNPs which in exon27and upstreamtranscriptional regulatory regions of PLCE1and one SNP within upstreamtranscriptional regulatory regions of TIMP2were selected to be analyzed: exon27rs17417407(G/T)，-970rs11599672(G/T)，-1111rs8080623(G/A).Extracted genomeDNA from peripheral blood with proteinase K method; then all three selected SNPsites of genome DNA samples, which were from sporadic cases of esophageal cancerin Henan, sporadic cases of esophageal cancer in Hubei, migrants of the highincidence area in Henan and healthy controls in both Henan and Hubei, weregenotyped by PCR-RFLP and analyzed comparatively. Finally, the results ofgenotyping were analyzed by SPSS（.1）exon27rs17417407(G/T) of PLCE1allele hasthree gene types: TT, TG and GG; there was only difference between sporadic casesof esophageal cancer in Henan and Hubei in genotype GG (0.01<p<0.05).(2)—970rs11599672(G/T) of PLCE1allele has three gene types: GG, GT and TT; there weredifferences between healthy controls in Henan and migrants of the high incidence areain Henan in genotype TT and GG (p<0.05), healthy controls in Henan and Hubei ingenotype TT and GG(p<0.01).(3)-1111rs8080623(G/A) of TIMP2allele has threegene types:GG,GA,AA;there were significant differences between migrants of thehigh incidence area in Henan and healthy controls in Henan and Hubei in genotypeAA and AG (p<0.01),moreover,there were significant differences between migrants ofthe high incidence area in Henan and sporadic cases of esophageal cancer in Henanand Hubei in genotype AA and AG.Single nucleotide polymorphisms at rs522616ofexon27、rs11599672of transcriptional regulatory regions in human phospholipase Cepsilon-1gene and rs8080623of transcriptional regulatory regions in matrixmetalloproteinase inhibitors2gene apparently associated with esophageal cancersusceptibility.