Department of Cardiothoracic Surgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Cancer Med. 2019 Mar;8(3):1289-1305. doi: 10.1002/cam4.1972. Epub 2019 Feb 21.
An increasing number of publications had reported the association between single-nucleotide polymorphisms (SNPs) and esophageal cancer (EC) risk in the past decades. Results from these publications were controversial. We used PubMed, Medline, and Web of Science to identify meta-analysis articles published before 30 July 2018, that summarize a comprehensive investigation for cumulative evidence of genetic polymorphisms of EC and its subtype risk. Two methods, Venice criteria and false-positive report probability (FPRP) tests, were used to assess cumulative evidence of significant associations. At last, 107 meta-analyses were considered to be in conformity with the inclusion criteria, yielding 51 variants associated with EC or esophageal squamous cell carcinoma (ESCC). Thirty-eight variants were considered to be nominally significant associated with risk of EC or ESCC, whereas the rest showed non-association. In additional, five variants on five genes were rated as strong cumulative epidemiological evidence for a nominally significant association with EC and ESCC risk, including CYP1A1 rs1048943, EGF rs444903, HOTAIR rs920778, MMP2 rs243865, and PLCE1 rs2274223, 10 variants were rated as moderate, and 18 variants were rated as weak. Additionally, 17 SNPs were verified noteworthy in six genomewide association studies (GWAS) using FPRP methods. Collectively, this review offered a comprehensively referenced information with cumulative evidence of associations between genetic polymorphisms and EC and ESCC risk.
在过去的几十年中，越来越多的出版物报道了单核苷酸多态性（SNPs）与食管癌（EC）风险之间的关联。这些出版物的结果存在争议。我们使用 PubMed、Medline 和 Web of Science 检索了截至 2018 年 7 月 30 日发表的荟萃分析文章，这些文章总结了对 EC 及其亚型风险的遗传多态性的综合研究。我们使用威尼斯标准和假阳性报告概率（FPRP）检验两种方法来评估有意义关联的累积证据。最后，有 107 项荟萃分析被认为符合纳入标准，得出了 51 个与 EC 或食管鳞状细胞癌（ESCC）相关的变体。有 38 个变体被认为与 EC 或 ESCC 的风险有名义上的显著关联，而其余的则没有关联。此外，在五个基因上的五个变体被评为与 EC 和 ESCC 风险的名义显著关联具有强烈的累积流行病学证据，包括 CYP1A1 rs1048943、EGF rs444903、HOTAIR rs920778、MMP2 rs243865 和 PLCE1 rs2274223，有 10 个变体被评为中度，18 个变体被评为弱度。此外，使用 FPRP 方法，在六项全基因组关联研究（GWAS）中验证了 17 个 SNP 的重要性。总之，本综述提供了全面的参考信息，具有遗传多态性与 EC 和 ESCC 风险之间关联的累积证据。
