| Objective: Phosphatase and tension homology deleted on chromosome ten(PTEN)plays an important regulatory role in the process of cell proliferation,differentiation and apoptosis.PTEN has dual specificity phosphatase activity,exerts its anti-cancer effect by participating in the signal regulation of PI3K/AKT pathway and maintaining the stability of nuclear chromatin structure.In this study,we investigate the association between PTEN gene rs11202586,rs1234220 and rs1903858 single nucleotide polymorphism and PTEN serum levels and non-small cell lung cancer.Methods: In this study,case-control study was conducted,the gene polymorphism of PTEN gene rs11202586,rs1234220 and rs1903858 was detected in 152 cases(103 males and 49 females)of NSCLC group and 124 cases(84 males and 40 females)of the control group with the multiple single-base extension(Snapshot SNP)technique.The Hardy-Weinberg equilibrium(HWE)law of population genetics was applied to examine whether the group included in the case group and the control group came from the same Mendelian group and whether the group was representative.Binary Logistic regression was used to analyze and adjust the factors such as age,gender and smoking history,and the odds ratio(OR)and the corresponding 95% confidence intervals(CI)were calculated.Enzyme-linked immunosorbent assay(ELISA)was used to detect the serum levels of PTEN in 113 patients(77 males and 36 females)and 103 controls(65 males and 38 females),and compared the serum levels of PTEN between the two groups and the PTEN serum levels of male and female,squamous cell carcinoma and adenocarcinoma,smokers and non-smokers in the non-small cell lung cancer group were compared,To analyze the relationship between PTEN gene polymorphism and serum expression level and the risk of NSCLC.Results:1.There were three genotypes(TT,CT and CC)in PTEN gene rs11202586 site,Wild-type homozygous TT and allele T were used as references,and there was no correlation between CT and CC genotypes and the risk of NSCLC(P >0.05);compared with the T allele,there was no correlation between the C allele and the risk of NSCLC(P >0.05);It suggests that the gene mutation at rs11202586 site may have no correlation with the risk of NSCLC.2.There were three genotypes(AA,AG and GG)in PTEN gene rs1234220 site,Wild-type homozygous AA and allele A were used as references,and there was no correlation between AG and GG genotypes and the risk of NSCLC(P >0.05),compared with the A allele,there was no correlation between the G allele and the risk of NSCLC(P >0.05);It suggests that the gene mutation at rs1234220 site may have no correlation with the risk of NSCLC.3.There were three genotypes(AA,AG and GG)in PTEN gene rs1903858 site,wild-type homozygous AA and allele A were used as referenc es,AG and GG genotype can significantly increase the risk of NSCLC(O R=2.079,95%CI=1.087-3.974,P=0.027;OR=1.897,95%CI=1.053-3.419,P=0.033),Analysis of alleles revealed that the G allele significantly increased th e risk of NSCLC(OR=1.505,95%CI=1.065-2.126,P=0.020),It suggests t hat the gene mutation at rs1903858 site may associated with the risk of NSCLC.4.Stratified analysis of smoking habits,pathological types and gender revealed that: in the smoker population,PTEN rs1903858 G allele signifi cantly increases the risk of NSCLC(OR=1.916,95%CI=1.023-3.589,P=0.042);PTEN rs1903858 GG genotype and G allele were associated with the risk of lung squamous cell carcinoma,The OR values(95%CI)were: OR=3.226,95%CI =1.075-9.678,P=0.037,and OR=1.873,95% CI=1.092 3.212,P=0.023,respectively;PTEN rs1234220 G allele increase the risk of lu ng adenocarcinoma,OR=1.730,95%CI= 1.054-2.841,P=0.030,In female population,PTEN rs1903858 G allele increases the risk of NSCLC,the O R value(95%CI)were: OR=2.026,95%CI=1.107-3.709,P=0.022.5.Analysis of haplotypes constructed at three sites of PTEN gene rs11202585,rs1234220 and rs1903858,we found TAA haplotype significantl y reduces the risk of NSCLC(OR=0.628,95%CI=0.446-0.886,P=0.008),it suggest that TAA haplotype is a protective factor for NSCLC.6.PTEN Serum levels in NSCLC group and control group were 55.13±69.98(ng/ml)and 42.30±55.56(ng/ml)(M±IQR)respectively,significant di fference were not found between the NSCLC group and control group,it suggest that there was no correlation between PTEN serum level and gen der,pathological type and smoking history of NSCLC patients(P>0.05).Conclusion:1.PTEN rs1903858 gene polymorphism was associated with the risk of NSCLC,the rs1903858 site mutation increased the risk of NSCLC,the rs1234220 site mutations can increase the risk of lung adenocarcinoma.2.There was no statistically significant correlation between serum levels of PTEN and the risk of NSCLC. |
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