prikaz prve stranice dokumenta NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms
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Scientific paper - Original scientific paper
NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms
Journal of Clinical Medicine, 10 (2021), 19; 4621. https://doi.org/10.3390/jcm10194621
Bainrauch, Ana; Šisl, Dino; Markotić, Antonio; Ostojić, Ana; Gašparov, Slavko; Bralić Lang, Valerija; Kovačić, Nataša; Grčević, Danka; Mrzljak, Anna; Kelava, Tomislav

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Bainrauch, A., Šisl, D., Markotić, A., Ostojić, A., Gašparov, S., Bralić Lang, V. ... Kelava, T. (2021). NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms. Journal of Clinical Medicine, 10. (19). doi: 10.3390/jcm10194621

Bainrauch, Ana, et al. "NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms." Journal of Clinical Medicine, vol. 10, no. 19, 2021. https://doi.org/10.3390/jcm10194621

Bainrauch, Ana, Dino Šisl, Antonio Markotić, Ana Ostojić, Slavko Gašparov, Valerija Bralić Lang, Nataša Kovačić, Danka Grčević, Anna Mrzljak and Tomislav Kelava. "NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms." Journal of Clinical Medicine 10, no. 19 (2021). https://doi.org/10.3390/jcm10194621

Bainrauch, A., et al. (2021) 'NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms', Journal of Clinical Medicine, 10(19). doi: 10.3390/jcm10194621

Bainrauch A, Šisl D, Markotić A, Ostojić A, Gašparov S, Bralić Lang V, and sur.. NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms. Journal of Clinical Medicine [Internet]. 2021 October 08 [cited 2024 October 07];10(19). doi: 10.3390/jcm10194621

A. Bainrauch, et al., "NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms", Journal of Clinical Medicine, vol. 10, no. 19, October 2021. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:948635. [Accessed: 07 October 2024]

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Metadata
Title (english)NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms
AuthorAna Bainrauch
AuthorDino Šisl
AuthorAntonio Markotić
AuthorAna Ostojić
AuthorSlavko Gašparov
AuthorValerija Bralić Lang
AuthorNataša Kovačić
AuthorDanka Grčević
AuthorAnna Mrzljak
AuthorTomislav Kelava
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Anatomy and Clinical Anatomy)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Physiology and Immunology)
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Internal Medicine)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Physiology
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Anatomy
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Abstract (english)
Alcoholic liver cirrhosis (ALC) is the most common indication for liver transplantation (LT) in Croatia and presents a risk factor for the development of hepatocellular carcinoma (HCC). However, genetic susceptibility has not yet been systematically studied. We aimed to investigate the contribution of the risk polymorphisms PNPLA3 rs738409, EGF rs4444903, TM6SF2 rs58542926, MTHFR rs1801133, previously identified in other populations and, additionally, the contribution of Notch-related polymorphisms (NOTCH1 rs3124591, NOTCH3 rs1043996 and rs1044116, NOTCH4 rs422951). The study included 401 patients. The ALC group consisted of 260 LT candidates, 128 of whom had histopathologically confirmed HCC, and 132 of whom were without HCC. The control group included 141 patients without liver disease. Genotyping was performed by PCR using Taqman assays. The patients’ susceptibility to ALC was significantly associated with PNPLA3 rs738409, TM6SF2 rs58542926, and NOTCH3 rs1043996 polymorphisms. These polymorphisms remained significantly associated with ALC occurrence in a logistic regression model, even after additional model adjustment for sex and age. Cirrhotic patients with the PNPLA3 GG genotype demonstrated higher activity of ALT aminotransferases than patients with CC or CG genotypes. The susceptibility to the development of HCC in ALC was significantly associated with PNPLA3 rs738409 and EGF rs4444903 polymorphisms, and logistic regression confirmed these polymorphisms as independent predictors.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleJournal of Clinical Medicine
Numberingvol. 10, no. 19, 4621
e-ISSN2077-0383
DOIhttps://doi.org/10.3390/jcm10194621
URN:NBNurn:nbn:hr:105:948635
Publication2021-10-08
Document URLhttps://www.mdpi.com/2077-0383/10/19/4621
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2022-04-07 08:11:29