hTERT基因多态性与宫颈癌前病变关联性研究  

Association between hTERT gene polymorphism and cervical precancerous lesions

作　　者：李春琳 张红平[2] 王应海[2] 李航[3] 杨晓娟[3] LI Chun-lin;ZHANG Hong-ping;WANG Ying-hai;LI Hang;YANG Xiao-juan(Department of Gynecology,Kunming Maternal and Child Health Hospital,Yunnan 650500 R.China;Department of Gynecology,Third Affiliated Hospital of Kunming Medical University,Yunnan 650500>P.R.China;Kunming Medical University,Yunnan 650500,P.R.China)

机构地区：[1]昆明市妇幼保健院妇科,云南昆明650500 [2]昆明医科大学第三附属医院(云南省肿瘤医院)妇科,云南昆明650500 [3]昆明医科大学,云南昆明650500

出　　处：《中华肿瘤防治杂志》2019年第18期1323-1328,共6页Chinese Journal of Cancer Prevention and Treatment

基　　金：云南省科技厅—昆明医科大学应用基础研究联合专项面上项目[2017FE467(-079)

摘　　要：目的宫颈癌是发病率较高的妇科恶性肿瘤之一,本研究探讨人端粒酶逆转录酶(human telomerase reverse transcriptase,hTERT)基因单核苷酸多态性与宫颈癌前病变发生发展的关联性。方法收集2015-01-03-2017-09-28昆明医科大学第三附属医院(云南省肿瘤医院)宫颈癌前病变患者宫颈组织(300例为实验组)以及HPV阴性无宫颈病变的宫颈组织(200名为对照组),提取标本的DNA,采用TaqMan探针基因分型方法,对hTERT基因的4个单核苷酸多态性(single nucleotide polymorphism,SNP)位点rs2736122(G> A)、rs2853676(C>T)、rs2853677(A> G)和rs2075786(A>G)进行基因测序,并构建单倍型,评估上述4个SNP位点及单倍型与宫颈癌前病变发生发展的相关性。结果实验组与对照组hTERT基因4个SNP位点rs2736122(G>A)、rs2853676(C>T)、rs2853677(A> G)和rs2075786(A>G)的基因型频率、等位基因频率比较,差异均无统计学意义,均P>0.05。实验组与对照组rs2075786/rs2736122的A-G、G-A和G-G单倍型频率分布差异无统计学意义,P>0.05。rs2853677(A>G)位点,低级别宫颈鳞状上皮内病变(low grade squamous intraepithelial lesion,LSIL)组和高级别宫颈鳞状上皮内病变(high grade squamous intraepithelial lesion,HSIL)组比较基因型频率差异有统计学意义,χ~2=8.817,P=0.012。遗传模式分析结果显示,基因型A/G在LSIL组和HSIL组比较,差异有统计学意义,OR=2.83,95%CI:1.61~4.99,P=0.000 2。结论 hTERT基因SNP位点rs2736122(G>A)、rs2853676(C>T)和rs2075786(A>G)多态性与宫颈癌前病变发生发展危险性无统计学意义关联。hTERT基因SNP位点rs2853677(A>G)A/G基因型可能增加了LSIL进一步发展为HSIL的风险。OBJECTIVE Cervical cancer is one of the most common gynecological malignancies worldwide.The present study aimed to investigate the correlation between human telomerase reverse transcriptase(hTERT)gene single nucleotide polymorphism and the development of cervical precancerous lesions.METHODS The cervical tissues of patients with cervical precancerous lesions and the cervical tissues of women with HPV-negative cervical lesions were collected,the DNA of the specimens was extracted,and four single nucleotide polymorphisms(SNPs)site rs2736122(G>A),rs2853676(C>T),rs2853677(A>G)and rs2075786(A>G)of the hTERT gene were sequenced.Then the haplotype was constructed to evaluate the correlation between the above four SNP loci and haplotypes and the development of cervical precancerous lesions.RESULTS Genome frequency and allele of 4 SNP loci of hTERT gene between experiment group and control group rs2736122(G>A),rs2853676(C>T),rs2853677(A>G),rs2075786(A>G)were no significant differences in gene frequency.rs2075786/rs2736122 frequency distribution of AG,GA and GG haplotypes was not statistically significant between the experimental group and the control group.rs2853677(A>G)locus A/G genotype was a statistically significant different between the different levels of cervical squamous intraepithelial lesions(χ~2= 8.871,P=0.012).The results of genetic model analysis showed that A/G genotype was compared in different levels of cervical squamous intraepithelial lesions(OR=2.83,95%CI:1.61-4.99,P=0.000 2).CONCLUSIONS There is no significant correlation between the SNP sites rs2736122(G>A),rs2853676(C>T)and rs2075786(A>G)polymorphism of hTERT gene and the risk of cervical precancerous lesions.rs2853677(A>G)A/G genotype may increase the risk of further development of low grade cervical intraepithelial lesion into high grade cervical intraepithelial lesions.

关 键 词：宫颈癌前病变 人端粒酶逆转录酶基因 单核苷酸多态性 TAQMAN探针 

分 类 号：R737.3[医药卫生—肿瘤]