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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

Cancer Medicine Mar 06, 2019

Tian J, et al. - Researchers sought to collect cumulative evidence of associations between genetic variants and esophageal cancer (EC) risk from published meta-analyses and genomewide association studies (GWAS), and evaluate these associations, that may assist the further investigation of genetic risk factors for EC and its subtype. Inclusion criteria was met by 107 meta-analyses, which yielded 51 variants associated with EC or esophageal squamous cell carcinoma (ESCC). Nominally significant association of 38 variants with risk of EC or ESCC was noted, whereas the rest showed non-association. Furthermore, they identified five variants on five genes that 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, there were 10 variants that were rated as moderate, and 18 variants that were rated as weak. Additionally, six GWAS yielded 17 SNPs that were verified as noteworthy using FPRP methods. Collectively, this work yield comprehensively referenced information with cumulative evidence supporting associations between genetic polymorphisms and EC and ESCC risk.
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