Abnormal telomerase activity plays a key role in the development of carcinogenesis. The variants rs2736100 and rs2736098 of the telomerase reverse transcriptase (TERT) gene, which encodes the telomerase catalytic subunit, are associated with the risk of different types of cancers. However, the results remain controversy. We conducted a meta-analysis to more precisely assess this association. We comprehensively searched the PubMed and Web of Science databases up to June 1, 2020, and retrieved a total of 103 studies in 82 articles, including 89,320 cases and 121,654 controls. Among these studies, 69 published studies including 75,274 cases and 10,3248 controls were focused on rs2736100, and 34 published studies including 14,046 cases and 18,362 controls were focused on rs2736098. The results showed a strong association between variant rs2736100 and cancer risk in all populations. (G vs. T: OR 1.18, 95% CI 1.12–1.24; TG+GG vs. TT: OR 1.23, 95% CI 1.15–1.31; GG vs. TG+TT: OR 1.25, 95% CI 1.16–1.36); the variant rs2736098 was associated with cancer risk in all populations as well (A vs. G: OR 1.13, 95% CI 1.05–1.22; GA+AA vs. GG: OR 1.15, 95% CI 1.04–1.27; AA vs. GA+GG: OR 1.22, 95% CI 1.10–1.38). Stratified analysis based on the cancer type indicated that rs2736100 was associated with an increased risk of thyroid cancer, bladder cancer, lung cancer, glioma, and myeloproliferative neoplasms. rs2736098 only increased the risk of bladder cancer and lung cancer. Moreover, the TERT variants rs2736100 and rs2736098 were associated with a decreased risk of breast cancer and colorectal cancer. The variants rs2736098 and rs2736100 located in 5p15.33 around TERT were associated with increased cancer risk in all populations. These two variants had bidirectional effects in different tumors.

异常的端粒酶活性在致癌作用的发展中起关键作用。端粒酶逆转录酶 (TERT) 基因的变体 rs2736100 和 rs2736098 编码端粒酶催化亚基，与不同类型癌症的风险相关。然而，结果仍然存在争议。我们进行了一项荟萃分析，以更准确地评估这种关联。我们全面检索了截至 2020 年 6 月 1 日的 PubMed 和 Web of Science 数据库，共检索到 82 篇文章中的 103 项研究，包括 89,320 例病例和 121,654 例对照。在这些研究中，有 69 篇已发表的研究（包括 75,274 例病例和 10,3248 例对照）关注 rs2736100，34 篇发表的研究（包括 14,046 例和 18,362 对照）关注 rs2736098。结果显示变异rs2736100与所有人群的癌症风险之间存在密切关联。（G 与 T：OR 1.18，95% CI 1.12–1.24；TG+GG 与 TT：OR 1.23，95% CI 1.15–1.31；GG 与 TG+TT：OR 1.25，95% CI 1.16–1.36） ; 变异 rs2736098 也与所有人群的癌症风险相关（A vs. G：OR 1.13, 95% CI 1.05–1.22；GA+AA vs. GG：OR 1.15, 95% CI 1.04–1.27；AA vs. GA +GG：OR 1.22，95% CI 1.10–1.38）。基于癌症类型的分层分析表明，rs2736100 与甲状腺癌、膀胱癌、肺癌、神经胶质瘤和骨髓增生性肿瘤的风险增加有关。rs2736098只会增加膀胱癌和肺癌的风险。此外，TERT 变体 rs2736100 和 rs2736098 与乳腺癌和结直肠癌的风险降低有关。位于 TERT 周围 5p15.33 的变体 rs2736098 和 rs2736100 与所有人群的癌症风险增加有关。这两种变体在不同的肿瘤中具有双向作用。