Abstract

This study aimed to determine whether C20orf54 rs13042395 polymorphism modify the risk of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinomas (GCA) in common population. We conducted a systematic literature review and evaluated the quality of included studies based on Newcastle-Ottawa Scale (NOS). Pooled odds ratios (ORs) and corresponding 95% confidence intervals (95%CIs) were calculated to estimate the strengths of the associations. 9 articles (10 studies) were identified for synthesis analyses. Overall, the results indicated that the C20orf54 rs13042395 genotype was subtly decrease the risk of ESCC (T vs. C: OR = 0.95; 95%CI = 0.90–0.99; P = 0.02) and the rs13042395 polymorphism was associated with a decreased risk of GCA (T vs. C: OR = 0.95; 95%CI = 0.91–0.98; P < 0.01). The subsets were divided by smoking and drinking status, but none of the genetic comparisons reached statistical significance. Subgroup analysis was also stratified by body mass index (BMI), rs13042395 polymorphism was significantly associated with a subtly decreased cancer risk in under-weight group and normal group, but no association was observed in over-weight group. In conclusion, C20orf54 rs13042395 polymorphism was significantly associated with decreased ESCC and GCA risk especially for the subjects with under-weight or normal.

Highlights

  • Esophageal cancer and gastric cancer cause more than 400,000 and 700,000 deaths each year, respectively, and represent the sixth and second leading causes of cancer-related death worldwide[1]

  • In 2010, a large-scale genome-wide association study (GWAS) reported that a new and notable susceptibility locus located in 5’ flanking region of chromosome 20 open reading frame 54 (C20orf54), it encodes riboflavin transporter 2 protein (RFT2) that was newly identified to play an important role in esophageal and carcinogenesis by modulating riboflavin uptake[9]

  • Of the 12 studies, 11 were population-based case-control studies and one was hospital-based case-control study, and eight studies were randomly repeated a portion of samples as quality control while genotyping

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Summary

Introduction

Esophageal cancer and gastric cancer cause more than 400,000 and 700,000 deaths each year, respectively, and represent the sixth and second leading causes of cancer-related death worldwide[1]. In 2010, a large-scale genome-wide association study (GWAS) reported that a new and notable susceptibility locus (rs13042395) located in 5’ flanking region of chromosome 20 open reading frame 54 (C20orf54), it encodes riboflavin transporter 2 protein (RFT2) that was newly identified to play an important role in esophageal and carcinogenesis by modulating riboflavin uptake[9]. It has important biological implications for both ESCC and GCA in the Chinese population[10,11]. The objective of the present study was to quantitatively assess the association between C20orf[54] rs13042395 polymorphism and risk of ESCC and/or GCA

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Conclusion

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