Abstract

Colorectal cancer (CRC) is a common complex disease caused by the combination of genetic variants and environmental factors. Genome-wide association studies (GWAS) have been performed and reported some novel CRC susceptibility variants. The rs16892766 (8q23.3) polymorphism was first identified to be significantly associated with CRC in European ancestry. The following studies investigated this association in Chinese, Japanese, Romanian, Swedish, African American, European American, and Croatian populations. These studies reported consistent and inconsistent results. Here, we reevaluated this association using the relatively large-scale samples from 13 studies (N = 59737, 26237 cases and 33500 controls) using a meta-analysis by searching the PubMed, Google Scholar and CRCgene databases. We observed no significant heterogeneity among the included studies. Our results showed significant association between rs16892766 polymorphism and CRC (P = 1.33E-35, OR = 1.23, 95% CI 1.20-1.27). Collectively, our analysis further supports previous findings that the rs16892766 polymorphism is significantly associated with CRC susceptibility. We believe that our findings will be very useful for future genetic studies on CRC.

Highlights

  • Colorectal cancer (CRC) is a common complex disease caused by the combination of genetic variants and environmental factors

  • Our results showed significant association between rs16892766 polymorphism and CRC (P 5 1.33E-35, OR 5 1.23, 95% CI 1.20-1.27)

  • Our analysis further supports previous findings that the rs16892766 polymorphism is significantly associated with CRC susceptibility

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Summary

Introduction

Colorectal cancer (CRC) is a common complex disease caused by the combination of genetic variants and environmental factors. Genome-wide association studies (GWAS) have been performed and reported some novel CRC susceptibility variants. The following studies investigated this association in Chinese, Japanese, Romanian, Swedish, African American, European American, and Croatian populations These studies reported consistent and inconsistent results. CRC is a common complex disease caused by the combination of genetic variants and environmental factors[1]. Talseth-Palmer et al investigated whether the rs16892766 (8q23.3) acts as modifier of disease risk in patients with Lynch syndrome using 684 mutationpositive patients with Lynch syndrome from 298 Australian and Polish families[18] They identified an association between rs16892766 on chromosome 8q23.3 and the risk of developing CRC and age of diagnosis was found in MLH1 mutation carriers[18]

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