PLCE1 Gene Polymorphisms Associated With Risk Of Colorectal Cancer

Objective: All of this study is to investigate people Phospholipase C epsilon 1(Phospholipase C epsilon- 1, PLCE1) gene rs2274223(A/G), rs17417407(G/T) two loci of single nucleotide polymorphisms(single nucleotide ploymorphisms, SNPS) and Colorectal Cancer(Colorectal Cancer, CRC) relationship, providing a molecular basis for the diagnosis and treatment of colorectal cancer with favorable.Methods: Between Feb. 2012- Feb. 2015 in the fourth affiliated hospital of hebei medical university,138 cases of colorectal rectal cancers patients, 102 cases of colon cancers and 147 healthy people were chosed as control study. Objects meet the conditions for the experiment collected venous blood of 5 ml, and record the age, gender, smoking, drinking, family history and other information. The proteinase K digestion- saturated nacl salting out method to extract the the DNA in white blood cells, the Polymerase Chain Reaction- ligase detection Reaction(PCR-LDR) was used to detect PLCE1 gene and rs2274223(A/G)、rs17417407(G/T) two SNP loci alleles and genotype.Experiment data using SPSS Ver17.0 software package(SPSS Company in New York, Chicago, Illionis, USA) for statistical analysis. Age difference in rectal cancer, colon cancer group and health control group were conducted by t-test; And gender differences between the two groups and the distribution of allele frequency and genotype frequency distribution using the chi-square test, respectively. Hardy-Weinberg equilibrium analysis was performed by comparing the observed and expected genotype. By unconditional logistic regression method to calculate represents the ratio of relative risk degree than(odds thewire, OR) and 95% confidence interval(the confidence interval, CI). PLCE1 gene in EH software and 2 ld-rs2274223(A/G) and rs17417407(G/T) two SNPs with combined analysis, P < 0.05 as there are significant difference of the standard.Results:1 The distribution of the genotype frequencies of rs2274223(A/G)、rs17417407(G/T) two loci were consistent with Hardy-Weinberg equilibrium(P>0.05).2 PLCE1 gene rs2274223(A/G) polymorphism and rectal cancer risk correlation analysisThe frequency of PLCE1 gene rs2274223 loci A and G in the rectal cancer group was 68.12% and 31.88%, and 78.57% and 21.43% in control group, Compared in two groups, There were statistically significant difference in rectal cancer and the control group(P value was 0.005), In the rectal cancer group, AA, AG, GG and AG+GG genotype frequency were 49.28%, 36.23%,,14.49% and 50.72%,while 61.90%,33.33%, 4.76% and 38.10% in normal control group, There had correlation with the incidence of rectal cancers and control group(GG vs AA:OR = 3.824, 95% CI = 1.529-9.559; AG+ GG vs AA :OR = 1.673, 95% CI = 1.044-2.680).3 PLCE1 gene rs17417407(G/T) polymorphism and rectal cancer risk correlation analysisThe frequency of PLCE1 gene rs17417407 loci G and T in the rectal cancer group was 81.52% and 18.48%, and 79.59% and 20.41% in control group, Compared in two groups, There were no statistically significant difference in rectal cancer and the control group(P value was 0.561), In the rectal cancer group, AA, AG,GG and AG+GG genotype frequency were 69.57%, 23.91%,,6.52% and 30.43%,while 64.63%,29.93%, 5.44% and 35.37% in normal control group, There were no statistical significance compare with control group(P >0.05).4 PLCE1 gene rs2274223(A/G) polymorphism and colon cancer risk correlation analysisThe frequency of PLCE1 gene rs2274223 loci A and G in the colon cancer group was 70.10% and 29.90%, and 78.57% and 21.43% in colon group, Compared in two groups, There were statistically significant difference in colon cancer and the control group(P value was 0.032), In the colon cancer group, AA, AG, GG and AG+GG genotype frequency were 49.02%, 42.16%,,8.82% and 50.98%,while 61.90%,33.33%, 4.76% and 38.10% in normal control group, There had not correlation with the incidence of colon cancers and control group(AG+ GG vs AA :OR = 1.690 95% CI = 1.013-2.818).5 PLCE1 gene rs17417407(G/T) polymorphism and colon cancer risk correlation analysisThe frequency of PLCE1 gene rs17417407 loci G and T in the colon cancer group was 76.47% and 23.53%, and79.59% and 20.41% in control group, Compared in two groups, There were no statistically significant difference in colon cancer and the control group(P value was 0.406), In the colon cancer group, AA, AG,GG and AG+GG genotype frequency were 62.75%, 27.45%,,9.80% and 37.25%,while 64.63%,29.93%, 5.44% and 35.37% in normal control group, There were no statistical significance compare with control group(P >0.05).6 Locus conjoint analysize of PLCE1 gene rs2274223(A/G) and rs17417407(G/T) two SNP s.Using EH software and 2 ld in colorectal cancer and colon cancer group and the control group respectively rs2274223 PLCE1 gene(A/G) and rs17417407(G/T) two SNP s locus for joint analysis.Shows two SNP s PLCE1 gene loci in rectal cancer group and control group between the chain imbalance(D ’= 0.119), the crowd rs2274223G- rsl7417407 T haplotype increases the risk of colorectal cancer(OR = 2.413, 95% CI = 2.413 ~ 3.819);Rs2274223G- rsl7417407 G haplotype increases the risk of colon cancer(OR = 1.130, 95% CI = 1.130 ~ 2.425), while rs2274223G- rsl7417407 T haplotype to reduce the risk of colon cancer(OR = 0.837, 95% CI = 0.837 ~ 0.934).Other haplotype may had nothing to do with colorectal cancer and colon cancer risk.Conclusion:1 PLCE1 gene rs2274223(A/G) may be correlate to the incidence of CRC. Carrying the AG+GG genotype may increase the risk of CRC. The G allele may be a genetic markers of susceptibility in northern China in the pathogenesis of CRC.2 PLCE1 gene rs17417407(G/T) SNP may be not correlate to the incidence of CRC.3 PLCE1 gene rs2274223 and rsl7417407 exsit a linkage disequilibrium between SNPs loci(D=0.994). rs2274223G-rsl7417407 T haplotype increase rectal cancer risk, rs2274223G-rsl7417407 G haplotype can increase colon cancer risk, the other two haplotype may not be associated with the risk of colon cancer. rs2274223G-rsl7417407 T decrease the risk of colon cancer. The other kinds of haplotypes may not be associated with the risk of colorectal cancer.