Jannuzzi Ayse Tarbin, Karaman Ecem, Oztas Ezgi, Yanar Hakan Teoman, Özhan Gül
1 Department of Pharmaceutical Toxicology, Faculty of Pharmacy, Istanbul University , Istanbul, Turkey .
2 Department of General Surgery, Faculty of Medicine, Istanbul University , Istanbul, Turkey .
Genet Test Mol Biomarkers. 2015 Dec;19(12):692-7. doi: 10.1089/gtmb.2015.0150. Epub 2015 Oct 26.
Colorectal cancer is the third most common cause of cancer-related mortality. Previous studies demonstrated increased telomerase activity in colorectal cancer tissue and suggested a prognostic value for patients with colorectal carcinoma. Telomerase reverse transcriptase (TERT), one of the main functional subunits of the telomerase, is an important factor in modulating telomerase activity, telomere length, and genomic stability. However, there are few studies that have addressed the association between genetic variation at TERT and the risk of colorectal cancer.
We evaluated the influence of three common single-nucleotide polymorphisms (SNPs) of the TERT gene (rs2853669, rs2736100, rs2736098) on susceptibility to colorectal cancer in 104 patients and 135 controls in a Turkish population.
We observed that rs2736098 was significantly associated with increased risk of colorectal cancer (OR = 2.53; 95% CI = 1.26-5.10; p = 0.008). On the other hand, rs2736100 and rs2853669 showed no association with colorectal cancer (p ≥ 0.128).
These findings are the first results of TERT allele distributions in the Turkish population and also provide increased understanding with respect to colorectal cancer etiology.
结直肠癌是癌症相关死亡的第三大常见原因。先前的研究表明结直肠癌组织中端粒酶活性增加，并提示其对结直肠癌患者具有预后价值。端粒酶逆转录酶（TERT）是端粒酶的主要功能亚基之一，是调节端粒酶活性、端粒长度和基因组稳定性的重要因素。然而，很少有研究探讨TERT基因的遗传变异与结直肠癌风险之间的关联。
我们评估了TERT基因的三个常见单核苷酸多态性（SNP，rs2853669、rs2736100、rs2736098）对土耳其人群中104例患者和135例对照患结直肠癌易感性的影响。
我们观察到rs2736098与结直肠癌风险增加显著相关（OR = 2.53；95%CI = 1.26 - 5.10；p = 0.008）。另一方面，rs2736100和rs2853669与结直肠癌无关联（p≥0.128）。
这些发现是土耳其人群中TERT等位基因分布的首批结果，也为结直肠癌病因学提供了更多的认识。
