Abstract

A genome-wide association study identified a common genetic variant rs4939827 at 18q21 in SMAD7 to be related with colorectal cancer (CRC) risk with OR=1.2 and P =7.80E-28. Until recently, several meta-analysis studies have been conducted, and reported significant association between rs4939827 and CRC risk. However none of these studies evaluated the potential association between rs4939827 and CRC risk in Chinese population. In this study, we evaluated this association by a meta-analysis using 12077 samples including 5816 CRC cases and 6261 controls. In the end, we identified the T allele of rs4939827 to be significantly related with an increase CRC risk (P=2.22E-05, OR=1.14, 95% CI 1.07-1.21) in Chinese population.

Highlights

  • It is reported that colorectal cancer (CRC) is the third most common type of cancer and the leading cause of cancer death, which could cause about 600,000 deaths in the world annually [1,2]

  • We identified the T allele of rs4939827 to be significantly related with an increase CRC risk (P=2.22E-05, odds ratio (OR)=1.14, 95% confidence interval (CI) 1.07-1.21) in Chinese population

  • Hong et al selected 12 casecontrol studies, which only included 2 studies in Asian population and Chinese population [17]. We selected another two independent case-control association studies using Google Scholar and Baidu Scholar databases. All these 6 studies evaluated the potential association between rs4939827 and CRC risk in Chinese population using a total of 12077 samples including 5816 CRC cases and 6261 controls

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Summary

Introduction

It is reported that colorectal cancer (CRC) is the third most common type of cancer and the leading cause of cancer death, which could cause about 600,000 deaths in the world annually [1,2]. Evidence shows that CRC is a common human complex disease, which is considered to be caused by the interactions between genetic variants and environmental factors [1,2]. It is reported that some factors including allele frequencies, specific linkage disequilibrium structure, and special genetic and environmental backgrounds may cause the risk alleles variation to CRC risk in different populations [3]. There are different survival and clinicopathologic features in colorectal cancer in African American, Caucasian, and Chinese patients [7]. All these findings indicate that it is still necessary to evaluate a specific variant in a specific population, which would be informative to reveal the disease mechanism [3]

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