dc.creator | Gil Gómez, Antonio | es |
dc.creator | Rojas, Ángela | es |
dc.creator | García Lozano, María R. | es |
dc.creator | Muñoz Hernández, Rocío | es |
dc.creator | Gallego-Durán, Rocío | es |
dc.creator | Maya Miles, Douglas | es |
dc.creator | Ampuero Herrojo, Javier | es |
dc.creator | Romero Gómez, Manuel | es |
dc.date.accessioned | 2023-09-21T16:59:27Z | |
dc.date.available | 2023-09-21T16:59:27Z | |
dc.date.issued | 2022 | |
dc.identifier.citation | Gil Gómez, A., Rojas, Á., García Lozano, M.R., Muñoz Hernández, R., Gallego-Durán, R., Maya Miles, D.,...,Romero Gómez, M. (2022). Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients. International Journal of Molecular Sciences, 23 (19), 11840. https://doi.org/10.3390/ijms231911840. | |
dc.identifier.issn | 1422-0067 | es |
dc.identifier.uri | https://hdl.handle.net/11441/149087 | |
dc.description.abstract | Abstract: A common splice variant in HSD17B13 (rs72613567:TA) was recently found to be associated
with a reduced risk of developing chronic liver disease in NAFLD patients and a reduced risk of
progression to advanced fibrosis and cirrhosis. In this study, we aimed to evaluate the prognosis of
cirrhotic patients harboring this variant. We performed a retrospective analysis on 483 prospectively
recruited patients from four different hospitals in Spain, followed-up for at least 5 years. We collected
clinical, demographic, and biochemical data, and we performed a genotyping analysis for com mon variants previously associated with liver disease risk (HSD17B13 rs72613567:TA and PNPLA3
rs738409). Patients homozygous for the TA allele showed a higher MELD score (p = 0.047), Child–
Turcotte–Pugh score (p = 0.014), and INR levels (p = 0.046), as well as decreased albumin (p = 0.004) at
baseline. After multivariate analysis, patients with the “protective” variant indeed had an increased
risk of hepatic decompensation [aHR 2.37 (1.09–5.06); p = 0.029] and liver-related mortality [aHR 2.32
(1.20–4.46); p = 0.012]. Specifically, these patients had an increased risk of developing ascites (Log-R
11.6; p < 0.001), hepatic encephalopathy (Log-R 10.2; p < 0.01), and higher mortality (Log-R 14.1;
p < 0.001) at 5 years of follow-up. Interactions with the etiology of the cirrhosis and with the variant
rs738409 in PNPLA3 are also described. These findings suggest that the variant rs72613567:TA in
HSD17B13 has no protective effect, but indeed increases the risk of decompensation and death in
patients with advanced chronic liver disease. | es |
dc.format | application/pdf | es |
dc.format.extent | 11 | es |
dc.language.iso | eng | es |
dc.publisher | MDPI AG | es |
dc.relation.ispartof | International Journal of Molecular Sciences, 23 (19), 11840. | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | Cirrhosis | es |
dc.subject | Polymorphism | es |
dc.subject | PNPLA3 | es |
dc.subject | HSD17B13 | es |
dc.subject | NAFLD | es |
dc.subject | Fibrosis | es |
dc.subject | Ascites | es |
dc.subject | Hepatic encephalopathy | es |
dc.subject | SNP | es |
dc.subject | Hepatic decompensation | es |
dc.title | Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Fisiología | es |
dc.relation.projectID | PE-0451-2018 ,P20_01075 | es |
dc.relation.projectID | PI19/01404, PI19/00589 | es |
dc.relation.publisherversion | https://www.mdpi.com/1422-0067/23/19/11840 | es |
dc.identifier.doi | 10.3390/ijms231911840 | es |
dc.journaltitle | International Journal of Molecular Sciences | es |
dc.publication.volumen | 23 | es |
dc.publication.issue | 19 | es |
dc.publication.initialPage | 11840 | es |
dc.contributor.funder | Consejería de Salud, Junta de Andalucía | es |
dc.contributor.funder | Ministerio de Ciencia e Innovación | es |
dc.contributor.funder | Junta de Andalucía | es |