Telomere length, genetic variants and risk of squamous cell carcinoma of the head and neck in Southeast Chinese.
Telomere length, genetic variants and risk of squamous cell carcinoma of the head and neck in Southeast Chinese.
复制标题
中国东南地区端粒长度、遗传变异与头颈部鳞状细胞癌风险
DOI：
10.1038/srep20675
复制
发表时间：
2016-02-09
影响因子：
4.6
通讯作者：
Shen H
中科院分区：
文献类型：
--
作者：
Gu Y;Yu C;Miao L;Wang L;Xu C;Xue W;Du J;Yuan H;Dai J;Jin G;Hu Z;Ma H;Shen H
端粒功能异常参与恶性转化和肿瘤的发生。以前的研究探讨了端粒长度（TL）和癌症易感性之间的关系;然而，研究结果是不确定的。遗传变异与TL之间的关联已被多个全基因组关联研究（GWAS）所证实。然而，迄今为止，还没有关于TL及其相关遗传变异与中国人头颈部鳞状细胞癌（SCCHN）易感性之间关系的研究。因此，我们使用定量PCR检测相对端粒长度（RTL）和TaqMan等位基因判别分析的基因型选择7个单核苷酸多态性在510例SCCHN和913例对照在中国东南地区。结果显示，RTL与SCCHN危险性显著相关[校正比值比（OR）= 1.19，95%可信区间（CI）= 1.08- 1.32，P = 0.001]。在7个SNPs中，只有rs 2736100的G等位基因与中国人RTL降低（P= 0.002）和SCCHN易感性增加（相加模型：校正OR = 1.17，95%CI = 1.00- 1.38，P = 0.049）相关。这些发现提供了证据，缩短TL是SCCHN的一个危险因素，遗传变异可能有助于TL和SCCHN的易感性在中国东南地区的人群。
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.