端粒酶逆转录酶基因 rs10069690 变体与癌症风险的关联：一项更新的荟萃分析。

Association of telomerase reverse transcriptase gene rs10069690 variant with cancer risk: an updated meta-analysis.

机构信息

Department of Thoracic Surgery, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200030, China.

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, 200030, China.

出版信息

BMC Cancer. 2024 Aug 27;24(1):1059. doi: 10.1186/s12885-024-12833-2.

DOI:10.1186/s12885-024-12833-2

PMID:39192222

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11350973/

Abstract

OBJECTIVE

Existing evidence suggests telomerase activation is a crucial step in tumorigenesis. The telomerase reverse transcriptase (TERT), encoded by the human TERT gene, is critical for telomerase expression. The TERT rs10069690 (C > T) variant was identified to be associated with the risk of cancer, however, there have been inconsistent results. Therefore, we performed a comprehensive meta-analysis aiming to clarify the association between this variant and cancer susceptibility.

METHODS

We conducted literature search in PubMed, EMbase, MEDLINE and Cochrane Library up to April 30, 2024. Overall, there are 55 studies involving 334,196 patients with cancer and 741,187 controls included in the present study. All statistical analyses were performed by STATA software (version 11.0).

RESULTS

The pooled results showed a significant association between rs10069690 and an increased risk of cancer under allele model (OR = 1.10, 95% CI: 1.07-1.13, P < 0.001), especially in European and Asian populations. When stratified by cancer types, this variant was associated with elevated risk of breast cancer (OR = 1.11, 95% CI: 1.07-1.15, P < 0.001), ovarian cancer (OR = 1.14, 95% CI: 1.10-1.19, P < 0.001), lung cancer (OR = 1.20, 95% CI: 1.07-1.35, P = 0.003), thyroid cancer (OR = 1.23, 95% CI: 1.15-1.32, P < 0.001), gastric cancer (OR = 1.31, 95% CI: 1.19-1.45, P < 0.001), and renal cell carcinoma (OR = 1.29, 95% CI: 1.07-1.55, P = 0.007), while decreased risk was found for hepatocellular carcinoma, prostate cancer and pancreatic cancer. Our results also indicated that this variant was significantly associated with solid cancer (OR = 1.11, 95% CI: 1.07-1.14, P < 0.001), but not with hematological tumor.

CONCLUSION

This systematic meta-analysis demonstrated that the TERT rs10069690 variant was a risk factor for cancer. However, the effects of this variant may vary in different types of cancer and differ across ethnic populations.

摘要

目的

现有证据表明端粒酶激活是肿瘤发生的关键步骤。端粒酶逆转录酶（TERT），由人类 TERT 基因编码，对端粒酶的表达至关重要。TERT rs10069690（C > T）变体被确定与癌症风险相关，但结果并不一致。因此，我们进行了一项综合荟萃分析，旨在阐明该变体与癌症易感性之间的关联。

方法

我们在 PubMed、EMbase、MEDLINE 和 Cochrane Library 中进行了文献检索，检索时间截至 2024 年 4 月 30 日。本研究共纳入了 55 项研究，涉及 334196 例癌症患者和 741187 例对照。所有统计分析均使用 STATA 软件（版本 11.0）进行。

结果

汇总结果显示，在等位基因模型下，rs10069690 与癌症风险增加显著相关（OR=1.10，95%CI：1.07-1.13，P<0.001），尤其是在欧洲和亚洲人群中。按癌症类型分层时，该变体与乳腺癌（OR=1.11，95%CI：1.07-1.15，P<0.001）、卵巢癌（OR=1.14，95%CI：1.10-1.19，P<0.001）、肺癌（OR=1.20，95%CI：1.07-1.35，P=0.003）、甲状腺癌（OR=1.23，95%CI：1.15-1.32，P<0.001）、胃癌（OR=1.31，95%CI：1.19-1.45，P<0.001）和肾细胞癌（OR=1.29，95%CI：1.07-1.55，P=0.007）风险增加相关，而与肝癌、前列腺癌和胰腺癌风险降低相关。我们的结果还表明，该变体与实体瘤（OR=1.11，95%CI：1.07-1.14，P<0.001）显著相关，但与血液肿瘤无关。