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| Home > Articles > Published articles > Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients |
| Home > Articles > Published articles > Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients |
(Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) (Institut d'Investigació Biomèdica Sant Pau) (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
| Date: | 2022 |
| 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 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; 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. |
| Grants: | Instituto de Salud Carlos III PI19/01404 Instituto de Salud Carlos III PI19/00589 Instituto de Salud Carlos III PFIS FI20/00201 Instituto de Salud Carlos III IFI18/00041 European Commission. Horizon 2020 777377 |
| Note: | Altres ajuts: Consejería de Salud de la Junta de Andalucía (PE-0451-2018, P20_01075); Ministerio de Ciencia y Competitividad, Consejería de Salud y Familias, Junta de Andalucía (RH-122-2020, RH-002-2021); Talento Doctores (PID Junta Andalucía, DOC_00866). |
| Rights: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Language: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Subject: | Cirrhosis ; Polymorphism ; PNPLA3 ; HSD17B13 ; NAFLD ; Fibrosis ; Ascites ; Hepatic encephalopathy ; SNP ; Hepatic decompensation |
| Published in: | International journal of molecular sciences, Vol. 23 Núm. 19 (october 2022) , p. 11840, ISSN 1422-0067 |
