Gu Yayun, Yu Chengxiao, Miao Limin, Wang Lihua, Xu Chongquan, Xue Wenjie, Du Jiangbo, Yuan Hua, Dai Juncheng, Jin Guangfu, Hu Zhibin, Ma Hongxia, Shen Hongbing
Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China.
Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing 210029, China.
Sci Rep. 2016 Feb 9;6:20675. doi: 10.1038/srep20675.
Telomere dysfunction participates in malignant transformation and tumorigenesis. Previous studies have explored the associations between telomere length (TL) and cancer susceptibility; however, the findings are inconclusive. The associations between genetic variants and TL have been verified by quite a few genome-wide association studies (GWAS). Yet, to date, there was no published study on the relationship between TL, related genetic variants and susceptibility to squamous cell carcinoma of the head and neck (SCCHN) in Chinese. Hence, we detected relative telomere length (RTL) by using quantitative PCR and genotyped seven selected single nucleotide polymorphisms by TaqMan allelic discrimination assay in 510 SCCHN cases and 913 controls in southeast Chinese. The results showed that RTL was significantly associated with SCCHN risk [(adjusted odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.08-1.32, P = 0.001]. Furthermore, among seven selected SNPs, only G allele of rs2736100 related to RTL in Caucasians was significantly associated with both the decreased RTL (P = 0.002) and the increased susceptibility to SCCHN in Chinese (additive model: adjusted OR = 1.17, 95%CI = 1.00-1.38, P = 0.049). These findings provide evidence that shortened TL is a risk factor for SCCHN, and genetic variants can contribute to both TL and the susceptibility to SCCHN in southeast Chinese population.
端粒功能障碍参与恶性转化和肿瘤发生。以往的研究探讨了端粒长度（TL）与癌症易感性之间的关联；然而，研究结果尚无定论。遗传变异与TL之间的关联已通过相当多的全基因组关联研究（GWAS）得到验证。然而，迄今为止，尚未有关于中国人群中TL、相关遗传变异与头颈部鳞状细胞癌（SCCHN）易感性之间关系的发表研究。因此，我们在中国东南部的510例SCCHN病例和913例对照中，采用定量PCR检测相对端粒长度（RTL），并通过TaqMan等位基因鉴别分析对7个选定的单核苷酸多态性进行基因分型。结果显示，RTL与SCCHN风险显著相关[调整后的优势比（OR）=1.19，95%置信区间（CI）=1.08 - 1.32，P = 0.001]。此外，在7个选定的单核苷酸多态性中，只有在白种人中与RTL相关的rs2736100的G等位基因，在中国人群中与RTL缩短（P = 0.002）以及SCCHN易感性增加均显著相关（加性模型：调整后的OR = 1.17，95%CI = 1.00 - 1.38，P = 0.049）。这些发现提供了证据，表明缩短的TL是SCCHN的一个风险因素，并且遗传变异可影响中国东南部人群的TL以及SCCHN易感性。
Zotero 插件