Ding Chen-Yue, Hu Ling-Min, Hu Zhi-Bin, Shen Hong-Bing
Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 210029, China.
Zhonghua Yu Fang Yi Xue Za Zhi. 2011 Jul;45(7):593-6.
To explore the correlation between single-nucleotide polymorphisms (SNPs) of telomerase reverse transcriptase (TERT) rs2736098 and rs2736100 and the susceptibility to hepatocellular carcinoma (HCC).
This case-control study design included 1300 diagnosed HCC patients with HBsAg positive and 1344 HBsAg positive people as control-group.rs2736098 and rs2736100 on TERT were selected as research sites, whose polymorphisms were detected by TaqMan allelic discrimination assay. The OR values (95%CI) were calculated by logistic regression to compare the correlation between different genotype and susceptibility to HCC.
The distribution frequencies of three genotypes as GG, AG and AA on rs2736098 were separately 39.3% (500/1273), 44.2% (563/1273) and 16.5% (210/1273) in case group; while respectively 39.6% (526/1328), 45.5% (604/1328) and 14.9% (198/1328) in control group. The distribution frequencies of three genotypes as AA, AC and CC on rs2736100 were separately 33.7% (428/1269), 49.9% (633/1269) and 16.4% (208/1269) in case group; while respectively 34.0% (449/1322), 49.2% (651/1322) and 16.8% (222/1322) in control group. The multi-variates logistic regression analysis showed that there was no significant difference between rs2736098 mutated A carriers and genotype GG carriers in the susceptibility to HCC after adjusting by age, sex, smoking and drinking factors (rs2736098, AA + AG vs GG: adjusted OR = 1.00 (95%CI: 0.86 - 1.18)); and there was no significant different between rs2736100 mutated C carriers and genotype AA carriers in the susceptibility to HCC either (AC + CC vs AA: adjusted OR = 1.03 (95%CI: 0.87 - 1.22)).
The polymorphisms of rs2736098 and rs2736100 on TERT may not play a landmark role in susceptibility to HCC among Chinese population.
探讨端粒酶逆转录酶（TERT）基因单核苷酸多态性（SNP）rs2736098和rs2736100与肝细胞癌（HCC）易感性之间的相关性。
本病例对照研究纳入1300例确诊的HBsAg阳性HCC患者和1344例HBsAg阳性者作为对照组。选择TERT基因上的rs2736098和rs2736100作为研究位点，采用TaqMan等位基因分型法检测其多态性。通过logistic回归计算比值比（OR值）（95%可信区间），比较不同基因型与HCC易感性之间的相关性。
病例组中rs2736098位点GG、AG和AA三种基因型的分布频率分别为39.3%（500/1273）、44.2%（563/1273）和16.5%（210/1273）；对照组分别为39.6%（526/1328）、45.5%（604/1328）和14.9%（198/1328）。病例组中rs2736100位点AA、AC和CC三种基因型的分布频率分别为33.7%（428/1269）、49.9%（633/1269）和16.4%（208/1269）；对照组分别为34.0%（449/1322）、49.2%（651/1322）和16.8%（222/1322）。多因素logistic回归分析显示，在校正年龄、性别、吸烟和饮酒因素后，rs2736098突变型A携带者与基因型GG携带者在HCC易感性方面无显著差异（rs2736098，AA + AG vs GG：校正OR = 1.00（95%CI：0.86 - 1.18））；rs2736100突变型C携带者与基因型AA携带者在HCC易感性方面也无显著差异（AC + CC vs AA：校正OR = 1.03（95%CI：0.87 - 1.22））。
TERT基因的rs2736098和rs2736100多态性在中国人群HCC易感性中可能不发挥标志性作用。
