TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis.
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 did not mediate the effect of PNPLA3 rs738409 SNP for liver developing liver fibrosis or liver cirrhosis.
['Basyte-Bacevice|Viktorija|V|', 'Skieceviciene|Jurgita|J|', 'Valantiene|Irena|I|', 'Sumskiene|Jolanta|J|', 'Petrenkiene|Vitalija|V|', 'Kondrackiene|Jurate|J|', 'Petrauskas|Dalius|D|', 'Lammert|Frank|F|', 'Kupcinskas|Juozas|J|0000-0002-8760-7416']
D000217:Acyltransferases D000328:Adult D000368:Aged D005235:Fatty Liver, Alcoholic D005260:Female D020022:Genetic Predisposition to Disease D006526:Hepatitis C D006801:Humans D008049:Lipase D008103:Liver Cirrhosis D008297:Male D008565:Membrane Proteins D008875:Middle Aged D020641:Polymorphism, Single Nucleotide
TM6SF2 MBOAT7 liver cirrhosis hepatic fibrosis PNPLA3 gene polymorphism