RT Journal Article
T1 Genetic Variants of Alcohol Metabolizing Enzymes and Alcohol-Related Liver Cirrhosis Risk
A1 Ayuso, Pedro
A1 García Martín, Elena Salobrar
A1 Cornejo García, José A.
A1 Agúndez, José A. G.
A1 Ladero Quesada, José María
AB 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.
PB MPDI
SN 2075-4426
YR 2021
FD 2021-05-13
LK https://hdl.handle.net/20.500.14352/7133
UL https://hdl.handle.net/20.500.14352/7133
LA eng
NO Ayuso, P., García Martín, E: S., Cornejo García, J. A. et al. «Genetic Variants of Alcohol Metabolizing Enzymes and Alcohol-Related Liver Cirrhosis Risk». Journal of Personalized Medicine, vol. 11, n.o 5, mayo de 2021, p. 409. DOI.org (Crossref), https://doi.org/10.3390/jpm11050409.
NO Instituto de Salud Carlos III
NO Junta de Extremadura
NO Fondo Europeo de Desarrollo Regional
DS Docta Complutense
RD 8 abr 2025