Please use this identifier to cite or link to this item: doi:10.22028/D291-27829
Title: TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis
Author(s): Basyte-Bacevice, Viktorija
Skieceviciene, Jurgita
Valantiene, Irena
Sumskiene, Jolanta
Petrenkiene, Vitalija
Kondrackiene, Jurate
Petrauskas, Dalius
Lammert, Frank
Kupcinskas, Juozas
Language: English
Title: International Journal of Molecular Sciences
Volume: 20
Issue: 6
Publisher/Platform: MDPI
Year of Publication: 2019
Free key words: hepatic fibrosis
liver cirrhosis
gene polymorphism
DDC notations: 610 Medicine and health
Publikation type: Journal Article
Abstract: Previous large-scale genetic studies identified single nucleotide polymorphisms (SNPs) of the TM6SF2 and MBOAT7 genes as risk factors for alcoholic liver cirrhosis and non-alcoholic fatty liver disease. In this study, we tried to evaluate the association between TM6SF2 variant rs58542926 and MBOAT7 variant rs641738 and the risk of hepatic fibrosis or liver cirrhosis of different etiology. In parallel, we also aimed to evaluate whether these two SNPs modify the effects of the PNPLA3 rs738409 risk variant for the development of hepatic fibrosis and liver cirrhosis. The study was conducted at the Department of Gastroenterology, Lithuanian University of Health Sciences Hospital,and included 334 patients with liver cirrhosis, 128 patients with liver fibrosis, and 550 controls. SNPs were genotyped by quantitative PCR, using TaqMan allelic discrimination assays. Overall, TM6SF2 rs58542926 as well as MBOAT7 rs641738 were not linked to hepatic fibrosis, alcohol or hepatitis C virus induced liver cirrhosis in an Eastern European population. These genetic variations also didnot mediate the effect of PNPLA3 rs738409 SNP for liver developing liver fibrosis or liver cirrhosis.
DOI of the first publication: 10.3390/ijms20061277
Link to this record: urn:nbn:de:bsz:291--ds-278292
ISSN: 1422-0067
Date of registration: 6-Nov-2020
Faculty: M - Medizinische Fakultät
Department: M - Innere Medizin
Professorship: M - Prof. Dr. Frank Lammert
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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