Unraveling the pathogenesis of non‐alcoholic fatty liver diseases through genome‐wide association studies

The global epidemiology of nonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH): a systematic review

(2023) Zobair M. Younossi et al.   HEPATOLOGY

Inhibition of HSD17B13 protects against liver fibrosis by inhibition of pyrimidine catabolism in nonalcoholic steatohepatitis

(2023) Panu K. Luukkonen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Membrane phospholipid remodeling modulates nonalcoholic steatohepatitis progression by regulating mitochondrial homeostasis

(2023) Ye Tian et al.   HEPATOLOGY

Hepatocyte mARC1 promotes fatty liver disease

(2023) Lara C. Lewis et al.   JHEP Reports

En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH

(2022) Masaki Kimura et al.   CELL

IL-6/STAT3 axis dictates the PNPLA3-mediated susceptibility to non-alcoholic fatty liver disease

(2022) Jiwoon Park et al.   JOURNAL OF HEPATOLOGY

Liver specific deletion of mouse Tm6sf2 promotes steatosis, fibrosis and hepatocellular cancer

(2021) Elizabeth P. Newberry et al.   HEPATOLOGY

The trans-ancestral genomic architecture of glycemic traits

(2021) Ji Chen et al.   NATURE GENETICS

Hepatic TM6SF2 Is Required for Lipidation of VLDL in a Pre-Golgi Compartment in Mice and Rats

(2021) Fei Luo et al.   Cellular and Molecular Gastroenterology and Hepatology

TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models

(2021) Miriam Longo et al.   Cellular and Molecular Gastroenterology and Hepatology

LPIAT1/MBOAT7 depletion increases triglyceride synthesis fueled by high phosphatidylinositol turnover

(2020) Yuki Tanaka et al.   GUT

Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis

(2020) Constantinos A. Parisinos et al.   JOURNAL OF HEPATOLOGY

MARC1 variant rs2642438 increases hepatic phosphatidylcholines and decreases severity of non-alcoholic fatty liver disease in humans

(2020) Panu K. Luukkonen et al.   JOURNAL OF HEPATOLOGY

Hepatic NADH reductive stress underlies common variation in metabolic traits

(2020) Russell P. Goodman et al.   NATURE

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

(2020) Connor A. Emdin et al.   PLoS Genetics

Loss of hepatic Mboat7 leads to liver fibrosis

(2020) Veera Raghavan Thangapandi et al.   GUT

Hsd17b13 Deficiency Does not Protect Mice From Obesogenic Diet Injury

(2020) Yanling Ma et al.   HEPATOLOGY

rs641738C>T near MBOAT7 is associated with liver fat, ALT, and fibrosis in NAFLD: a meta-analysis

(2020) Kevin Teo et al.   JOURNAL OF HEPATOLOGY

Hepatic Deletion of Mboat7 (Lpiat1) Causes Activation of SREBP-1c and Fatty Liver

(2020) Mingfeng Xia et al.   JOURNAL OF LIPID RESEARCH

Association of genetic variation with cirrhosis: a multi-trait genome-wide association and gene-environment interaction study

(2020) Connor A. Emdin et al.   GASTROENTEROLOGY

Global epidemiology of NAFLD-related HCC: trends, predictions, risk factors and prevention

(2020) Daniel Q. Huang et al.   Nature Reviews Gastroenterology & Hepatology

Interaction of TM6SF2 E167K and PNPLA3 I148M variants in NAFLD in northeast China

(2019) Min Xu et al.   Annals of Hepatology

Accumulation of PNPLA3 on lipid droplets is the basis of associated hepatic steatosis

(2019) Soumik BasuRay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1

(2019) Jian Zhang et al.   MOLECULAR CELL

Genetic contributions to NAFLD: leveraging shared genetics to uncover systems biology

(2019) Mohammed Eslam et al.   Nature Reviews Gastroenterology & Hepatology

Obesity-linked suppression of membrane-bound O-acyltransferase 7 (MBOAT7) drives non-alcoholic fatty liver disease

(2019) Robert N Helsley et al.   eLife

Hydroxysteroid (17β) dehydrogenase 13 deficiency triggers hepatic steatosis and inflammation in mice

(2018) Marion Adam et al.   FASEB JOURNAL

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

(2018) Masahiro Kanai et al.   NATURE GENETICS

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

(2018) Noura S. Abul-Husn et al.   NEW ENGLAND JOURNAL OF MEDICINE

HSD17B13 is a Hepatic Retinol Dehydrogenase Associated with Histological Features of Non-Alcoholic Fatty Liver Disease

(2018) Yanling Ma et al.   HEPATOLOGY

The PNPLA3 I148M variant modulates the fibrogenic phenotype of human hepatic stellate cells

(2017) Francesca Virginia Bruschi et al.   HEPATOLOGY

Impaired hepatic lipid synthesis from polyunsaturated fatty acids in TM6SF2 E167K variant carriers with NAFLD

(2017) Panu K. Luukkonen et al.   JOURNAL OF HEPATOLOGY

Adiposity amplifies the genetic risk of fatty liver disease conferred by multiple loci

(2017) Stefan Stender et al.   NATURE GENETICS

Intestinal Phospholipid Remodeling Is Required for Dietary-Lipid Uptake and Survival on a High-Fat Diet

(2016) Bo Wang et al.   Cell Metabolism

Hepatic Transmembrane 6 Superfamily Member 2 Regulates Cholesterol Metabolism in Mice

(2016) Yanbo Fan et al.   GASTROENTEROLOGY

Inactivation ofTm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but Not Secretion of Very Low Density Lipoproteins

(2016) Eriks Smagris et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The MBOAT7 variant rs641738 alters hepatic phosphatidylinositols and increases severity of non-alcoholic fatty liver disease in humans

(2016) Panu K. Luukkonen et al.   JOURNAL OF HEPATOLOGY

TM6SF2 as a genetic risk factor for fibrosis

(2015) Ann K. Daly et al.   HEPATOLOGY

Circulating triacylglycerol signatures and insulin sensitivity in NAFLD associated with the E167K variant in TM6SF2

(2015) You Zhou et al.   JOURNAL OF HEPATOLOGY

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

(2015) Stephan Buch et al.   NATURE GENETICS

Genome-wide analysis of hepatic lipid content in extreme obesity

(2014) Johanna K. DiStefano et al.   ACTA DIABETOLOGICA

Pnpla3I148Mknockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis

(2014) Eriks Smagris et al.   HEPATOLOGY

PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells

(2014) Carlo Pirazzi et al.   HUMAN MOLECULAR GENETICS

The mammalian molybdenum enzymes of mARC

(2014) Gudrun Ott et al.   JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease

(2014) Julia Kozlitina et al.   NATURE GENETICS

TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content

(2014) H. Mahdessian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease

(2014) Yang-Lin Liu et al.   Nature Communications

Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

(2013) Linn Fagerberg et al.   MOLECULAR & CELLULAR PROTEOMICS

The genetics of NAFLD

(2013) Quentin M. Anstee et al.   Nature Reviews Gastroenterology & Hepatology

Adiponutrin Functions as a Nutritionally Regulated Lysophosphatidic Acid Acyltransferase

(2012) Manju Kumari et al.   Cell Metabolism

Role of patatin-like phospholipase domain-containing 3 on lipid-induced hepatic steatosis and insulin resistance in rats

(2012) Naoki Kumashiro et al.   HEPATOLOGY

The Mitochondrial Amidoxime-reducing Component (mARC1) Is a Novel Signal-anchored Protein of the Outer Mitochondrial Membrane

(2012) Julian M. Klein et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chronic overexpression of PNPLA3I148M in mouse liver causes hepatic steatosis

(2012) John Zhong Li et al.   JOURNAL OF CLINICAL INVESTIGATION

Expression and Characterization of a PNPLA3 Protein Isoform (I148M) Associated with Nonalcoholic Fatty Liver Disease

(2011) Yongcheng Huang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits

(2011) Elizabeth K. Speliotes et al.   PLoS Genetics

Patatin-like phospholipase domain-containing 3/adiponutrin deficiency in mice is not associated with fatty liver disease

(2010) Weiqin Chen et al.   HEPATOLOGY

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

Lysophospholipid Acyltransferases and Arachidonate Recycling in Human Neutrophils

(2008) Miguel A. Gijón et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Fourth Molybdenum Containing Enzyme mARC: Cloning and Involvement in the Activation ofN-Hydroxylated Prodrugs

(2008) Sanja Gruenewald et al.   JOURNAL OF MEDICINAL CHEMISTRY

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

(2008) Stefano Romeo et al.   NATURE GENETICS

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

(2008) Cristen J Willer et al.   NATURE GENETICS