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oai:repisalud.isciii.es:20.500.12105/183432024-11-28T14:54:53Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927
Repisalud author Ayuso, Pedro author García-Martín, Elena author Cornejo-García, José A. author Agúndez, José A G. author Ladero, José María authoraffiliation [Ayuso,P; García-Martín,E; Agúndez,JAG] ARADyAL, Instituto de Salud Carlos III, University Institute of Molecular Pathology Biomarkers, UEx, Cáceres, Spain. [Cornejo-García,JA] ARADyAL, Instituto de Salud Carlos III Research Laboratory, IBIMA, Regional University Hospital of Málaga, UMA, Málaga, Spain. [Ladero,JM] Service of Gastroenterology (Liver Unit), Hospital Clínico San Carlos, Universidad Complutense Medical School, Madrid, Spain. 2024-02-19T15:28:17Z 2024-02-19T15:28:17Z 2021-05-13 10.3390/jpm11050409 2075-4426 Journal of Personalized Medicine http://hdl.handle.net/10668/3961 34068303 http://hdl.handle.net/20.500.12105/18343 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): ADH1B gene, rs1229984, rs1041969, rs6413413, and rs2066702; ADH1C gene, rs35385902, rs283413, rs34195308, rs1693482, and rs35719513; CYP2E1 gene, rs3813867. Furthermore, copy number variations (CNVs) for ADH1A, ADH1B, ADH1C, and CYP2E1 genes were analyzed. A significant protective association with the risk of developing alcohol-related liver cirrhosis was observed between the mutant alleles of SNVs ADH1B rs1229984 (Pc value = 0.037) and ADH1C rs283413 (Pc value = 0.037). We identified CNVs in all genes studied, ADH1A gene deletions being more common in alcohol-related liver cirrhosis patients than in control subjects, although the association lost statistical significance after multivariate analyses. Our findings support that susceptibility to alcohol-related liver cirrhosis is related to variations in alcohol metabolism genes. eng Alcohol-related liver disease Cirrhosis Single nucleotide variations Copy number variations Alcohol dehydrogenase Trastornos relacionados con alcohol Hepatopatías Cirrosis hepática Polimorfismo de nucleótido único Variaciones del número de copias de ADN Alcohol deshidrogenasa Genetic Variants of Alcohol Metabolizing Enzymes and Alcohol-Related Liver Cirrhosis Risk research article