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J Pers Med. 2021 May 13;11(5). doi: 10.3390/jpm11050409.

Genetic Variants of Alcohol Metabolizing Enzymes and Alcohol-Related Liver Cirrhosis Risk.

Journal of personalized medicine

Pedro Ayuso, Elena García-Martín, José A Cornejo-García, José A G Agúndez, José María Ladero

Affiliations

  1. ARADyAL, Instituto de Salud Carlos III, University Institute of Molecular Pathology Biomarkers, UEx, 10003 Cáceres, Spain.
  2. ARADyAL, Instituto de Salud Carlos III Research Laboratory, IBIMA, Regional University Hospital of Málaga, UMA, 29010 Málaga, Spain.
  3. Service of Gastroenterology (Liver Unit), Hospital Clínico San Carlos, Universidad Complutense Medical School, 28040 Madrid, Spain.

PMID: 34068303 PMCID: PMC8153263 DOI: 10.3390/jpm11050409

Abstract

Alcohol-related liver disease (ARLD) is a major public health issue caused by excessive alcohol consumption. ARLD encompasses a wide range of chronic liver lesions, alcohol-related liver cirrhosis being the most severe and harmful state. Variations in the genes encoding the enzymes, which play an active role in ethanol metabolism, might influence alcohol exposure and hence be considered as risk factors of developing cirrhosis. We conducted a case-control study in which 164 alcohol-related liver cirrhosis patients and 272 healthy controls were genotyped for the following functional single nucleotide variations (SNVs):

Keywords: alcohol dehydrogenase; alcohol-related liver disease; cirrhosis; copy number variations; single nucleotide variations

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