Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis

J Ghouse, G Sveinbjörnsson, M Vujkovic, AS Seidelin… - Nature Genetics, 2024 - nature.com
We report a multi-ancestry genome-wide association study on liver cirrhosis and its
associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase …

Genetic variants that associate with cirrhosis have pleiotropic effects on human traits

VL Chen, Y Chen, X Du, SK Handelman… - Liver …, 2020 - Wiley Online Library
Abstract Background and Aims Cirrhosis is characterized by extensive fibrosis of the liver
and is a major cause of liver‐related mortality. Cirrhosis is partially heritable but genetic …

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

JZ Liu, MA Almarri, DJ Gaffney, GF Mells, L Jostins… - Nature …, 2012 - nature.com
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium
and 8,514 UK population controls across 196,524 variants within 186 known autoimmune …

A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis

S Buch, F Stickel, E Trepo, M Way, A Herrmann… - Nature …, 2015 - nature.com
Alcohol misuse is the leading cause of cirrhosis and the second most common indication for
liver transplantation in the Western world,,. We performed a genome-wide association study …

Genetic variants in PNPLA3 and TM6SF2 predispose to the development of hepatocellular carcinoma in individuals with alcohol-related cirrhosis

F Stickel, S Buch, HD Nischalke, KH Weiss… - Official journal of the …, 2018 - journals.lww.com
OBJECTIVES: Variants in patatin-like phospholipase domain-containing 3 (PNPLA3;
rs738409), transmembrane 6 superfamily member 2 (TM6SF2; rs58542926), and membrane …

Variant in PNPLA3 is associated with alcoholic liver disease

C Tian, RP Stokowski, D Kershenobich, DG Ballinger… - Nature …, 2010 - nature.com
Two genome-wide association studies (GWAS) have described associations of variants in
PNPLA3 with nonalcoholic fatty liver and plasma liver enzyme levels. We investigated the …

PNPLA3 genotype and diabetes identify patients with nonalcoholic fatty liver disease at high risk of incident cirrhosis

VL Chen, A Oliveri, MJ Miller, K Wijarnpreecha, X Du… - Gastroenterology, 2023 - Elsevier
Background & Aims Non-alcoholic fatty liver disease (NAFLD) can progress to cirrhosis and
hepatic decompensation, but whether genetic variants influence the rate of progression to …

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

S Romeo, J Kozlitina, C Xing, A Pertsemlidis, D Cox… - Nature …, 2008 - nature.com
Nonalcoholic fatty liver disease (NAFLD) is a burgeoning health problem of unknown
etiology that varies in prevalence among ancestry groups. To identify genetic variants …

The PNPLA3 SNP rs738409: G allele is associated with increased liver disease-associated mortality but reduced overall mortality in a population-based cohort

PJ Meffert, KD Repp, H Völzke… - Journal of …, 2018 - journal-of-hepatology.eu
In a recent issue of the Journal, Atkinson and co-workers reported that a variant in the gene
patatin-like phospholipase domain-containing 3 (PNPLA3) not only affects liver disease …

PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirrhosis

E Guyot, A Sutton, P Rufat, C Laguillier, A Mansouri… - Journal of …, 2013 - Elsevier
BACKGROUND & AIMS: Several studies have reported an association between the genetic
variant rs738409 (G) in the PNPLA3 gene and the risk of cirrhosis in various liver diseases …