The identification of two regulatory ESCC susceptibility genetic variants in the TERT-CLPTM1L loci
作者： Liqing Zhou , Guobin Fu , Jinyu Wei , Juan Shi , Wenting Pan
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摘要: // Liqing Zhou 1, 2, * , Guobin Fu 3, Jinyu Wei 1 Juan Shi Wenting Pan Yanli Ren Xiangyu Xiong Jianhong Xia 2 Yue Shen Hongliang Li Ming Yang State Key Laboratory of Chemical Resource Engineering, Beijing Biomedical Materials, College Life Science and Technology, University Beijing, China Department Radiation Oncology, Huaian No. Hospital, Huaian, Jiangsu Province, 3 Provincial Hospital Affiliated to Shandong University, Jinan, These authors have contributed equally this work Correspondence to: Yang, e-mail: yangm@mail.buct.edu.cn Keywords: TERT, CLPTM1L, polymorphism, esophageal squamous cell carcinoma, susceptibility Received: September 05, 2015 Accepted: December 07, Published: 24, 2015 ABSTRACT The chromosome 5p15.33 TERT-CLPTM1L region has been identified by genome-wide association studies as a locus multiple malignancies. However, the involvement in carcinoma (ESCC) development is still largely unclear. We fine-mapped through genotyping 15 haplotype-tagging single nucleotide polymorphisms (htSNPs) using two stage case-control strategy. After analyzing 2098 ESCC patients frequency-matched 2150 unaffected controls, we found that rs2853691, rs2736100 rs451360 genetic are significantly associated with risk Chinese (all P <0.05). Reporter gene assays indicated SNP locating potential TERT intronic promoter genotype-specific effect on expression. Similarly, CLPTM1L also showed allelic impacts measuring expression sixty-six pairs cancer normal tissues, observed G allele carriers elevated oncogene Also, subjects protective T had much lower than those tissue specimens. Results these analyses underline complexity regulation telomere biology further support important role telomerase carcinogenesis. Our data susceptibility.
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