hTERT基因多态性与宫颈癌发生发展的相关性研究

Relationship between hTERT gene polymorphism and the occurrence and development of cervical cancer

目的:探索已知的hTERT基因单核苷酸多态性与宫颈癌的相关性,期待发现与宫颈癌发生发展相关的基因位点。方法:选取经病理诊断为宫颈恶性肿瘤的患者100例为实验组,体检健康女性共107例归为对照组。采用TaqMan探针基因分型方法对实验组中宫颈肿瘤标本和对照组健康人群外周血标本的DNA中9个hTERT基因SNP位点[rs2853691(C>T),rs2736122(G>A),rs10069690(C>T),rs2853676(C>T),rs2853677(A>G),rs2075786(A>G),rs2736098(A>G),rs2853690(A>G),rs2736114(C>T)]进行基因分型,并分析其等位基因及基因型与宫颈癌及相关预后不良因素间的关系。结果:hTERT基因的9个SNP位点的等位基因频率、基因型频率在实验组与对照组间比较差异无统计学意义;hTERT基因rs2853677(A>G)的位点在高分化癌组中以AA(43.2%)基因型为主,在低分化癌组中以AG(66.7%)基因型为主,两组间比较差异有统计学意义(P=0.033),hTERT基因s2736098(A>G)的位点高分化癌组中以AA(47.7%)基因型为主,在低分化癌组中以AG(60.8%)基因型为主,两组间比较差异有统计学意义(P=0.042),其余SNP位点的等位基因及基因型频率在宫颈癌不同分期、病理类型及肌层浸润组间比较均无统计学差异(P>0.05)。结论:hTERT基因9个SNP位点rs2853691(C>T),rs2736122(G>A),rs10069690(C>T),rs2853676(C>T),rs2853677(A>G),rs2075786(A>G),rs2736098(A>G),rs2853690(A>G),rs2736114(C>T)与宫颈癌的发生无关,但rs2853677(A>G)、rs2736098(A>G)A/G基因型可能与宫颈癌更差的组织分化相关。

Objective:To explore the relationship between the known single nucleotide polymorphism of hTERT gene and cervical cancer,and look forward to finding the gene sites related to the occurrence and development of cervical cancer.Methods:A total of 100 patients with cervical malignant tumor diagnosed by pathology were selected as the experimental group,and 107 healthy women were classified as the control group.Nine hTERT gene SNP loci[rs2853691(C>T),rs2736122(G>A),rs10069690(C>T)in the DNA of cervical tumor specimens in the experimental group and peripheral blood specimens of healthy people in the control group were analyzed by TaqMan probe genotyping method.rs2853676(C>T),rs2853677(A>G),rs2075786(A>G),rs2736098(A>G),rs2853690(A>G),rs2736114(C>T)]were genotyped.The relationship of alleles and genotypes with cervical cancer and related adverse prognostic factors was analyzed.Results:There was no statistical significance in allele frequency and genotype frequency of 9 SNP loci of hTERT gene between the experimental group and the control group.The hTERT rs2853677(A>G)locus was dominated by AA(43.2%)genotype in highly differentiated cancer group and AG(66.7%)genotype in poorly differentiated cancer group,and the difference between the two groups was statistically significant(P=0.033).The genotype of hTERT s2736098(A>G)was mainly AA(47.7%)in the highly differentiated cancer group,and AG(60.8%)in the poorly differentiated cancer group,and the difference between the two groups was statistically significant(P=0.042).There were no significant differences in alleles and genotype frequencies of other SNP loci among different stages of cervical cancer,pathological types and muscle infiltration groups(P>0.05).Conclusion:Nine SNP loci of hTERT gene rs2853691(C>T),rs2736122(G>A),rs10069690(C>T),rs2853676(C>T),rs2853677(A>G),rs2075786(A>G),rs2736098(A>G),rs2853690(A>G),rs2736114(C>T)were not associated with the development of cervical cancer,but rs 2853677(A>G),rs2736098(A>G)A/G genotype may be associated with worse tissue differentiation of cervical cancer.