乙醇代谢通路基因拷贝数变异与结直肠癌易感性的关联分析

龙琦; 陈维艳; 王灵巧; 李蓉; 向梦龙; 杨桓; 曹佳; 周紫垣

doi:10.16016/j.1000-5404.201803097

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乙醇代谢通路基因拷贝数变异与结直肠癌易感性的关联分析

临床医学 | 更新时间：2026-01-09

- 乙醇代谢通路基因拷贝数变异与结直肠癌易感性的关联分析
- Association of copy number variation in ethanol metabolic pathway genes with susceptibility of colorectal cancer
- 第三军医大学学报 2018年40卷第11期页码：991-997
- 作者机构：
- 作者简介：
- 基金信息：
  
  国家自然科学基金面上项目(81273156);国家自然科学基金面上项目(30771841)
- DOI：10.16016/j.1000-5404.201803097
  中图分类号：
- 收稿：2018-03-13，
  
  纸质出版：2018-06
- 稿件说明：
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龙琦, 陈维艳, 王灵巧, 等. 乙醇代谢通路基因拷贝数变异与结直肠癌易感性的关联分析[J]. 第三军医大学学报, 2018,40(11):991-997.

Qi LONG, Weiyan CHEN, Lingqiao WANG, et al. Association of copy number variation in ethanol metabolic pathway genes with susceptibility of colorectal cancer[J]. Journal of Third Military Medical University, 2018, 40(11): 991-997.
龙琦, 陈维艳, 王灵巧, 等. 乙醇代谢通路基因拷贝数变异与结直肠癌易感性的关联分析[J]. 第三军医大学学报, 2018,40(11):991-997. DOI： 10.16016/j.1000-5404.201803097.

Qi LONG, Weiyan CHEN, Lingqiao WANG, et al. Association of copy number variation in ethanol metabolic pathway genes with susceptibility of colorectal cancer[J]. Journal of Third Military Medical University, 2018, 40(11): 991-997. DOI： 10.16016/j.1000-5404.201803097.

摘要

Abstract

Objective

To investigate the relationship of the copy number variation (CNV) of 3 metabolic pathway genes for ethanol

alcohol dehydrogenase 1B (ADH1B)

aldehyde dehydrogenase-2 (ALDH2) and cytochrome P450 2E1 (CYP2E1) with the susceptibility of colorectal cancer (CRC) in the population living in the Southwest China.

Methods

A total of 449 CRC patients and 449 cancer-free controls were recruited during 2001 and 2004 from the 3 affiliated hospital of Army Medical University. The copy number of the 3 candidate genes were tested with a multiplex gene copy number quantitation method AccuCopy

. Then 10% samples were further verified for the copy number. Unconditional logistic regression analysis was applied to evaluate the association between germline CNV genotypes and CRC risk.

Results

There was no significant difference in the gene copy number of both ADH1B and ALDH2 between CRC patients and normal controls

and the number was 2 copies. While the copy number of CYP2E1 had significantly different distribution between the CRC patients and control subjects (

=0.046). Moreover

logistic regression analysis showed that the gain of CYP2E1 was a risk factor for CRC (

=2.47

95%

:1.04~5.85

=0.041). A further assessment for possible modifications of surrounding factors in a stratification analysis indicated that a positive association of CYP2E1 gain and CRC risk was found in subpopulations of older than 50 years

colon cancer

and daily ethanol consumption ≤ 50 g.

Conclusion

The gain of CYP2E1 copy number is associated with CRC in the population in the Southwest China.

关键词

Keywords

references

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