Abstract

Colorectal cancer (CRC) is the 5th leading cancer in China. Alcohol consumption has been reported to be one of the risk factors of CRC. However, it remains unclear whether genetic variants of alcohol metabolic genes are associated with CRC risk. In this study, we tested the coding variants in the alcohol metabolic genes and the risk of CRC, by using 485 cases and 516 controls. A total of 16 germline coding variants in 10 alcohol metabolic genes were genotyped. We identified that rs3741178 in ALDH3B2 was significantly associated with CRC risk with odds ratio being 2.13 (95% CI: 1.24–3.68, P=0.0064). Further functional annotation suggested that this variant may damage the protein function of ALDH3B2. Our results suggested that ALDH3B2 in the alcohol metabolism pathway contributed to the development of CRC, which may contribute to the prevention of this disease in the future.

Highlights

  • Colorectal cancer (CRC) ranks the fifth leading cause of cancer death among both men and women in China [1]

  • A few studies found that genetic polymorphisms in the ALDH2 were associated with colorectal cancer risk [10,11,12], genetic variants in the alcohol metabolic genes have not been systematically explored for the susceptibility for this cancer

  • Ese results suggested that rs3741178 may damage the protein function of ALDH3B2 and associated with risk of colorectal cancer. In this case-control study, we explored the association between variants in the alcohol metabolic genes and colorectal cancer risk in 485 CRC cases and 516 controls

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Summary

Introduction

Colorectal cancer (CRC) ranks the fifth leading cause of cancer death among both men and women in China [1]. Several exome-wide association studies identified that functional coding variants played an important role in the susceptibility of multiple cancers [4,5,6]. Erefore, more variants, especially functional coding ones, still need to be further explored. Alcohol drinking was an important risk factor for colorectal cancer [7]. Gene-drinking interaction was proved to be associated with risk of upper aerodigestive tract cancers, especially for esophageal cancer [8, 9]. A few studies found that genetic polymorphisms in the ALDH2 were associated with colorectal cancer risk [10,11,12], genetic variants in the alcohol metabolic genes have not been systematically explored for the susceptibility for this cancer

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