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Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta‐analysis and genome‐wide association studies

机译:遗传多态性与食道癌易感性相关的累积证据:荟萃分析和全基因组关联研究的证据

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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.
机译: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(SNP)与食道癌(EC)风险之间的关联。这些出版物的结果引起争议。我们使用PubMed,Medline和Web of Science来确定2018年7月30日之前发表的荟萃分析文章,该文章总结了对EC遗传多态性及其亚型风险的累积证据的综合研究。威尼斯标准和假阳性报告概率(FPRP)测试这两种方法用于评估重要关联的累积证据。最后,认为107项荟萃分析符合纳入标准,产生了51种与EC或食管鳞状细胞癌(ESCC)相关的变异。 38个变体被认为与EC或ESCC风险相关,名义上显着,而其余的则显示为非关联。此外,五个基因的五个变异体被认为是与EC和ESCC风险名义上显着相关的强累积流行病学证据,包括CYP1A1 rs1048943,EGF rs444903,HOTAIR rs920778,MMP2 rs243865和PLCE1 rs2274223,其中10个变异体被定为中度, 18个变体被评为弱。此外,使用FPRP方法在6个全基因组关联研究(GWAS)中证实了17个SNP值得注意。总的来说,该综述提供了全面参考的信息,并提供了遗传多态性与EC和ESCC风险之间关联的累积证据。

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