BMC Med 2011 ;9 106. [IF:5.750]
A functional tandem-repeats polymorphism in the downstream of TERT is associated with the risk of nasopharyngeal carcinoma in Chinese population.
Zhang Y , Zhang H , Zhai Y , Wang Z , Ma F , Wang H , Li P , Zhang Y , Yu L , Cui Y , He F , Zhou G .
Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
北京中国医学科学院，中国协和医科大学，医学科学院基础医学研究所

Abstract
Increases in human telomerase reverse transcriptase (TERT) expression and telomerase activity are frequently seen in nasopharyngeal carcinoma (NPC). Recently, a variable tandem-repeats polymorphism, MNS16A, located in the downstream region of the TERT gene, was identified and reported to have an effect on TERT expression and telomerase activity. We examined whether the functional MNS16A was related to the risk of occurrence or progression of NPC in the Chinese population. We genotyped the MNS16A polymorphism in a case-control study of 855 patients with NPC and 1036 cancer-free controls using PCR, and determined genotype by classifying the DNA band of 243 or 272 base pairs (bp) as the short (S) allele and 302 or 333 bp as the long (L) allele. The genetic associations with the risk of NPC were analyzed by logistic regression. The MNS16A genotype was not associated with the progression of NPC. However, individuals carrying the S alleles (SL + SS genotype) had a significantly reduced risk of NPC occurrence compared with those carrying the LL genotype (odds ratio (OR) = 0. 71, 95% confidence interval (CI) = 0. 52 to 0. 96, P = 0. 025). Using a immunohistochemical assay on the NPC tissues, the SL genotype carriers were found to have lower TERT expression than the LL genotype carriers (P = 0. 035). Our study indicates that the TERT MNS16A polymorphism may contribute to the risk of NPC onset in Chinese population.

摘要
在鼻咽癌中经常观察到人类端粒酶逆转录酶表达和端粒酶活性的增加。最近，端粒酶逆转录酶基因下游的串联重复多态性 MNS16A 被鉴定并报告说对端粒酶逆转录酶的表达和端粒酶活性有影响。我们检查在中国人群中功能性 MNS16A 是否与鼻咽癌的发生或进展有关。我们在 855 名鼻咽癌患者和 1036 名癌症患者的病例对照研究中用 PCR 技术检测 MNS16A 多态性的基因型，并且基因型分级中把 243 或 272 碱基对的 DNA 频率称为短等位基因 (S)，把 302 或 333 碱基对的 DNA 频率称为长等位基因(L)。鼻咽癌风险的基因通过逻辑式回归进行分析。MNS16A 基因型与鼻咽癌的进展不相关。然而，较那些具有长等位基因个体(优势比 (OR) = 0. 71, 95% 置信区间 (CI) = 0. 52 to 0. 96, P = 0. 025)，具有短等位基因个体(SL + SS 基因型) 鼻咽癌发生风险明显减少。在鼻咽癌组织中使用免疫组织化学检测，发现相比 LL 基因型个体，具有 SL 基因型的个体具有更低的端粒酶逆转录酶的表达(P = 0. 035)。我们的研究表明中国人群中端粒酶逆转录酶多态性 MNS16A 或许有助于鼻咽癌风险的发动。