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Article

Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: a genotype-phenotype study in cancers associated with drinking and/or smoking

  • Authors:
    • Irene Catanzaro
    • Flores Naselli
    • Marghereth Saverini
    • Antonio Giacalone
    • Giuseppe Montalto
    • Fabio Caradonna
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    Affiliations: Department of Molecular and Biomolecular Sciences and Technologies (STEMBIO), Section of Cellular Biology, University of Palermo, I-90128 Palermo, Italy, Department of Internal and Specialist Medicine, University of Palermo, I-90100 Palermo, Italy
  • Pages: 416-420
    |
    Published online on: May 14, 2012
       https://doi.org/10.3892/mmr.2012.914
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Abstract

Cytochrome P450 2E1 (CYP2E1) is one of the main enzymes involved in the oxidation of ethanol and in the transformation of a number of potentially dangerous compounds. It has various polymorphic sites, one of which is a variable number tandem repeat (VNTR) polymorphism previously described in the 5'-flanking region. The aim of this study was to investigate the genotype-phenotype association between CYP2E1 VNTR polymorphisms and risky health habits in healthy subjects and to analyze the associations between these polymorphisms with drinking- and/or smoking-related cancers. We analyzed 166 healthy subjects by genotyping for the CYP2E1 VNTR polymorphism associated with drinking and/or smoking habits by the more sensitive restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) method, using the NlaIV restriction enzyme. Sixty cases of pancreatic adenocarcinoma (PA) and 66 with hepatocellular carcinoma (HCC), were also genotyped. Statistical analysis was carried out to investigate the genotype-phenotype associations and to compare certain genotypes and cancer. We found 7 genotypes both in the healthy subjects and patients. The A1/A1 genotype was observed to be mainly associated with non-drinkers and -smokers (87.5 and 75.0%, respectively); moreover it was never found in the PA or HCC patients. Conversely, a weak association between A2/A3 with smokers (45.8%) and A4/A4 with drinkers (53.9%) was detected. In addition, the A4/A4 genotype was found to be significantly associated to PA [odds ratio (OR)=3.25; 95% confidence interval (CI) 1.21-7.50]. Our data demonstrate that certain CYP2E1 VNTR genotypes are associated with drinking and/or smoking habits; consequently, they may contribute either to the decreased or increased risk of developing drinking- and/or smoking-related cancers. In particular, we hypothesize that the A1/A1 VNTR genotype may have a protective role against drinking- and/or smoking-related cancers, and that A4/A4 may be a high-risk genotype during the early stages of cancer.
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Copy and paste a formatted citation
Spandidos Publications style
Catanzaro I, Naselli F, Saverini M, Giacalone A, Montalto G and Caradonna F: Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: a genotype-phenotype study in cancers associated with drinking and/or smoking. Mol Med Rep 6: 416-420, 2012.
APA
Catanzaro, I., Naselli, F., Saverini, M., Giacalone, A., Montalto, G., & Caradonna, F. (2012). Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: a genotype-phenotype study in cancers associated with drinking and/or smoking. Molecular Medicine Reports, 6, 416-420. https://doi.org/10.3892/mmr.2012.914
MLA
Catanzaro, I., Naselli, F., Saverini, M., Giacalone, A., Montalto, G., Caradonna, F."Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: a genotype-phenotype study in cancers associated with drinking and/or smoking". Molecular Medicine Reports 6.2 (2012): 416-420.
Chicago
Catanzaro, I., Naselli, F., Saverini, M., Giacalone, A., Montalto, G., Caradonna, F."Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: a genotype-phenotype study in cancers associated with drinking and/or smoking". Molecular Medicine Reports 6, no. 2 (2012): 416-420. https://doi.org/10.3892/mmr.2012.914
Copy and paste a formatted citation
x
Spandidos Publications style
Catanzaro I, Naselli F, Saverini M, Giacalone A, Montalto G and Caradonna F: Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: a genotype-phenotype study in cancers associated with drinking and/or smoking. Mol Med Rep 6: 416-420, 2012.
APA
Catanzaro, I., Naselli, F., Saverini, M., Giacalone, A., Montalto, G., & Caradonna, F. (2012). Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: a genotype-phenotype study in cancers associated with drinking and/or smoking. Molecular Medicine Reports, 6, 416-420. https://doi.org/10.3892/mmr.2012.914
MLA
Catanzaro, I., Naselli, F., Saverini, M., Giacalone, A., Montalto, G., Caradonna, F."Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: a genotype-phenotype study in cancers associated with drinking and/or smoking". Molecular Medicine Reports 6.2 (2012): 416-420.
Chicago
Catanzaro, I., Naselli, F., Saverini, M., Giacalone, A., Montalto, G., Caradonna, F."Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: a genotype-phenotype study in cancers associated with drinking and/or smoking". Molecular Medicine Reports 6, no. 2 (2012): 416-420. https://doi.org/10.3892/mmr.2012.914
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