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Background  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.    Methods  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.    Results  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).    Conclusions  Our study indicates that the  TERT  MNS16A polymorphism may contribute to the risk of NPC onset in Chinese population.

A functional tandem-repeats polymorphism in the downstream of TERTis associated with the risk of nasopharyngeal carcinoma in Chinese population