Gil-Gómez, AntonioRojas, ÁngelaGarcía-Lozano, María RMuñoz-Hernández, RocíoGallego-Durán, RocíoMaya-Miles, DouglasMontero-Vallejo, RocíoGato, SheilaGallego, JavierFrancés, RubénSoriano, GermánAmpuero, JavierRomero-Gómez, Manuel2023-05-032023-05-032022-10-06http://hdl.handle.net/10668/21201A 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 common 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; penAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/HSD17B13NAFLDPNPLA3SNPascitescirrhosisfibrosishepatic decompensationhepatic encephalopathypolymorphism17-Hydroxysteroid DehydrogenasesAlbuminsHumansLiver CirrhosisLoss of Function MutationNon-alcoholic Fatty Liver DiseasePolymorphism, Single NucleotideRetrospective StudiesImpact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients.research article36233142open access10.3390/ijms2319118401422-0067PMC9569581https://www.mdpi.com/1422-0067/23/19/11840/pdf?version=1665037793https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569581/pdf