[1]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.
 LONG Qi,CHEN Weiyan,WANG Lingqiao,et al.Association of copy number variation in ethanol metabolic pathway genes with susceptibility of colorectal cancer[J].J Third Mil Med Univ,2018,40(11):991-997.
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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(/HTML )
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《第三军医大学学报》[ISSN:1000-5404/CN:51-1095/R]

卷:
40卷
期数:
2018年第11期
页码:
991-997
栏目:
临床医学
出版日期:
2018-06-15

文章信息/Info

Title:
Association of copy number variation in ethanol metabolic pathway genes with susceptibility of colorectal cancer
作者:
龙琦陈维艳王灵巧李蓉向梦龙杨桓曹佳周紫垣
陆军军医大学(第三军医大学)军事预防医学系:军事环境卫生学教研室,毒理学研究所;610081 成都,凤凰山77120部队卫生连
Author(s):
LONG Qi CHEN Weiyan WANG Lingqiao LI Rong XIANG Menglong YANG Huan CAO Jia ZHOU Ziyuan

Department of Environment Health, Institute of Toxicology, Faculty of Military Preventive Medicine, Army Medical University (Third Military Medical University), Chongqing, 400038; Medical Company of Troop 77120, Chengdu, Sichuan Province, 610081, China

关键词:
结直肠癌ADH1BALDH2CYP2E1拷贝数变异  
Keywords:
colorectal cancer ADH1B ALDH2 CYP2E1 copy number variation
分类号:
R195.4; R394.5; R735.3
文献标志码:
A
摘要:

目的    探讨主要的乙醇代谢基因乙醇脱氢酶1B(ADH1B)、乙醛脱氢酶2(ALDH2)和细胞色素P450 2E1(CYP2E1)拷贝数变异与中国西南地区人群结直肠癌(colorectal cancer,CRC)风险的关联。方法    共纳入2001年1月至2004年6月陆军军医大学3所附属医院收集到的449例CRC和449例无癌对照。采用多重基因拷贝数定量方法AccuCopyTM对3个候选基因进行拷贝数检测,随机选取10%的样本进行拷贝数验证,采用二元Logistic回归分析CNV与CRC风险之间的关联。结果    ADH1B和ALDH2基因拷贝数在CRC病例和对照人群中没有变化,均为2拷贝。CYP2E1拷贝数在CRC患者和对照人群中分布差异有统计学意义(P=0.046)。Logistic回归分析发现CYP2E1拷贝数增加是CRC发生的危险因素(OR=2.47,95%CI:1.04~5.85,P=0.041)。分层后结果显示,年龄>50岁,肿瘤位于结肠,乙醇摄入量≤50 g的人群中,CYP2E1拷贝数增加与CRC风险具有关联。结论    CYP2E1拷贝数增加与中国西南地区人群CRC的发病风险具有显著关联。

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 AccuCopyTM. 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 (P=0.046). Moreover, logistic regression analysis showed that the gain of CYP2E1 was a risk factor for CRC (OR=2.47, 95%CI: 1.04~5.85,P=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.

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更新日期/Last Update: 2018-06-14