Explanipedia

Meta‐Analysis: Effects of Steatotic Liver Disease‐Associated Genetic Risk Alleles on Longitudinal Outcomes Open

Matthew Kubina, Vitchapong Prasitsumrit, Jennifer Tan, Joo Wei Ethan Quek, Dhiraj K. Peddu , et al. · 2025

Background Genetic variants associated with risk of steatotic liver disease (SLD) may also influence clinical events. Aims To perform a systematic review and meta‐analysis to determine the impact of SLD‐associated genetic variants on hepat…

PNPLA3 in Alcohol‐Related Liver Disease Open

Clélia Galvanin, Stephan Buch, Pierre Nahon, Eric Trépo · 2024

The discovery of PNPLA3 as a genetic risk factor for liver disease has transformed our understanding of the pathogenesis of alcohol‐related liver disease (ALD). The recent reclassification of fatty liver disease as steatotic liver disease …

Interpreting elevated liver blood test results through a genetic lens: A genome‐wide association study Open

Hamish Innes, Stephan Buch, Timothy J. Kendall, Jonathan Fallowfield, Indra Neil Guha · 2024

Background and Aims Individuals with genetic polymorphisms in UGT1A1 exhibit bilirubin levels that belie their risk of liver disease (Gilbert's syndrome) but it is not known if this phenomenon extends to other common liver blood tests (LBT…

The rs72613567:TA polymorphism in HSD17B13 is associated with survival benefit after development of hepatocellular carcinoma Open

Hamish Innes, Marsha Y. Morgan, Jochen Hampe, Felix Stickel, Stephan Buch · 2023

Summary Background The influence of genetic factors on survival following a diagnosis of hepatocellular carcinoma (HCC) remains unclear. Aim To assess whether genetic polymorphisms influencing the susceptibility to develop HCC are also ass…

High producer variant of lipoprotein lipase may protect from hepatocellular carcinoma in alcohol-associated cirrhosis Open

Franziska Schmalz, Janett Fischer, Hamish Innes, Stephan Buch, Christine Möller , et al. · 2023

Genetic Variation of SAMM50 Is Not an Independent Risk Factor for Alcoholic Hepatocellular Carcinoma in Caucasian Patients Open

Hans Dieter Nischalke, Franziska Schmalz, Stephan Buch, Janett Fischer, Christine Möller , et al. · 2022

Hepatocellular carcinoma (HCC) is a severe complication of advanced alcoholic liver disease, which is modulated by genetic predisposition. Identifying new genetic loci might improve screening. Genetic variation of SAMM50 was linked to HCC.…

Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study Open

Stephan Buch, Hamish Innes, Philipp Lutz, Hans Dieter Nischalke, Jens U. Marquardt , et al. · 2022

Objective Hepatocellular carcinoma (HCC) often develops in patients with alcohol-related cirrhosis at an annual risk of up to 2.5%. Some host genetic risk factors have been identified but do not account for the majority of the variance in …

Performance of routine risk scores for predicting cirrhosis-related morbidity in the community Open

Hamish Innes, Joanne R Morling, Stephan Buch, Victoria Hamill, Felix Stickel , et al. · 2022

New approaches are needed in community settings to reduce the late diagnosis of chronic liver disease. Thus, in a community cohort, we assessed the ability of 20 routine risk scores to predict 10-year risk of cirrhosis-related complication…

PSD3 downregulation confers protection against fatty liver disease Open

Rosellina Margherita Mancina, Kavitha Sasidharan, Anna Lindblom, Ying Wei, Ester Ciociola , et al. · 2022

The rs429358 Locus in Apolipoprotein E Is Associated With Hepatocellular Carcinoma in Patients With Cirrhosis Open

Hamish Innes, Hans Dieter Nischalke, Indra Neil Guha, Karl Heinz Weiss, William L. Irving , et al. · 2021

The host genetic background for hepatocellular carcinoma (HCC) is incompletely understood. We aimed to determine if four germline genetic polymorphisms, rs429358 in apolipoprotein E ( APOE ), rs2642438 in mitochondrial amidoxime reducing c…

Combined effects of PNPLA3, TM6SF2 and HSD17B13 variants on severity of biopsy-proven non-alcoholic fatty liver disease Open

Rafael Paternostro, Katharina Staufer, Stefan Traussnigg, Albert Friedrich Stättermayer, Emina Halilbasic , et al. · 2021

Objective Several single-nucleotide polymorphisms have been identified to be disadvantageous or protective in regard to disease severity in patients with non-alcoholic fatty liver disease (NAFLD). However, it is unclear, whether including …

Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease Open

Tenghao Zheng, David Ellinghaus, Simonas Juzėnas, François Cossais, Greta Burmeister , et al. · 2021

Objective Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study …

The rs738409 G Allele in PNPLA3 Is Associated With a Reduced Risk of COVID-19 Mortality and Hospitalization Open

Hamish Innes, Stephan Buch, Eleanor Barnes, Jochen Hampe, Thomas Marjot , et al. · 2021

Genetic architectures of proximal and distal colorectal cancer are partly distinct Open

Jeroen R. Huyghe, Tabitha A. Harrison, Stephanie A. Bien, Heather Hampel, Jane C. Figueiredo , et al. · 2021

Objective An understanding of the etiologic heterogeneity of colorectal cancer (CRC) is critical for improving precision prevention, including individualized screening recommendations and the discovery of novel drug targets and repurposabl…

Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis Open

Stephan Buch, Aneesh Sharma, Eleanor Ryan, Christian Datz, William J. Griffiths , et al. · 2021

Summary Background Cirrhosis develops in <10% of individuals homozygous for the C282Y variant in the homeostatic iron regulator ( HFE ) gene. Carriage of PCSK7 :rs236918 is associated with an increased risk of cirrhosis in this population.…

Genetic architectures of proximal and distal colorectal cancer are partly distinct. Open

Jeroen R. Huyghe, Tabitha A. Harrison, Stephanie A. Bien, Heather Hampel, Jane C. Figueiredo , et al. · 2021

OBJECTIVE: An understanding of the etiologic heterogeneity of colorectal cancer (CRC) is critical for improving precision prevention, including individualized screening recommendations and the discovery of novel drug targets and repurposab…

Nonalcoholic fatty liver disease stratification by liver lipidomics Open

Olga Vvedenskaya, Tim Rose, Oskar Knittelfelder, Alessandra Palladini, Judith Andrea Heidrun Wodke , et al. · 2021

Nonalcoholic fatty liver disease (NAFLD) is a common metabolic dysfunction leading to hepatic steatosis. However, NAFLD's global impact on the liver lipidome is poorly understood. Using high-resolution shotgun mass spectrometry, we quantif…

Genome-wide analysis of 944,133 individuals provides insights into the etiology of hemorrhoidal disease Open

Tenghao Zheng, David Ellinghaus, Simonas Juzėnas, François Cossais, Greta Burmeister , et al. · 2020

Hemorrhoidal disease (HEM) affects a large fraction of the population but its etiology including suspected genetic predisposition is poorly understood. We conducted a GWAS meta-analysis of 218,920 HEM patients and 725,213 controls of Europ…

Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects Open

Xingyi Guo, Weiqiang Lin, Wanqing Wen, Jeroen R. Huyghe, Stephanie A. Bien , et al. · 2020

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

K. Teo, Kushala Abeysekera, Leon A. Adams, Elmar Aigner, Quentin M. Anstee , et al. · 2020

Fatty liver disease is a common condition where fat builds up in the liver, which can cause liver inflammation and scarring (including 'cirrhosis'). It is closely linked to obesity and diabetes, but some genes are also thought to be import…

Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in people with hereditary haemochromatosis Open

Stephan Buch, Aneesh Sharma, Eleanor Ryan, Christian Datz, William J. Griffiths , et al. · 2020

Genome-wide association study for alcohol-related cirrhosis identifies new risk loci in MARC1 and HNRNPUL1 Open

Hamish Innes, Stephan Buch, Sharon Hutchinson, Indra Neil Guha, Joanne R Morling , et al. · 2020

Loss of hepatic Mboat7 leads to liver fibrosis Open

Veera Raghavan Thangapandi, Oskar Knittelfelder, Mario Brosch, Eleonora Patsenker, Olga Vvedenskaya , et al. · 2020

Objective The rs641738C>T variant located near the membrane-bound O-acyltransferase domain containing 7 (MBOAT7) locus is associated with fibrosis in liver diseases, including non-alcoholic fatty liver disease (NAFLD), alcohol-related live…

Genome-Wide Association Study for Alcohol-Related Cirrhosis Identifies Risk Loci in MARC1 and HNRNPUL1 Open

Hamish Innes, Stephan Buch, Sharon Hutchinson, Indra Neil Guha, Joanne R Morling , et al. · 2020

Genetic architectures of proximal and distal colorectal cancer are partly distinct Open

Jeroen R. Huyghe, Tabitha A. Harrison, Stephanie A. Bien, Heather Hampel, Jane C. Figueiredo , et al. · 2020

Objective An understanding of the etiologic heterogeneity of colorectal cancer (CRC) is critical for improving precision prevention, including individualized screening recommendations and the discovery of novel drug targets and repurposabl…

Cumulative Burden of Colorectal Cancer–Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer Open

Alexi Archambault, Yu‐Ru Su, Jihyoun Jeon, Minta Thomas, Yi Lin , et al. · 2019

rs641738C>T nearMBOAT7is positively associated with liver fat, ALT, and histological severity of NAFLD: a meta-analysis Open

K. Teo, Kushala Abeysekera, Leon A. Adams, Elmar Aigner, Jesús M. Bañales , et al. · 2019

Background & Aims A common genetic variant near MBOAT7 (rs641738C>T) has been previously associated with hepatic fat and advanced histology in non-alcoholic fatty liver disease (NAFLD), however, these findings have not been consistently re…

The PNPLA3 I148M variant promotes lipid-induced hepatocyte secretion of CXC chemokines establishing a tumorigenic milieu Open

Hans Dieter Nischalke, Philipp Lutz, Eva Bartok, Benjamin Krämer, Bettina Langhans , et al. · 2019

Genetic Variation in HSD17B13 Reduces the Risk of Developing Cirrhosis and Hepatocellular Carcinoma in Alcohol Misusers Open

Felix Stickel, Philipp Lutz, Stephan Buch, Hans Dieter Nischalke, Inês Pires da Silva , et al. · 2019

Background and Aims Carriage of rs738409:G in patatin‐like phospholipase domain containing 3 ( PNPLA3 ) is associated with an increased risk for developing alcohol‐related cirrhosis and hepatocellular carcinoma (HCC). Recently, rs72613567:…

Copy number variants in lipid metabolism genes are associated with gallstones disease in men Open

Eduardo Pérez‐Palma, Bernabé I. Bustos, Dennis Lal, Stephan Buch, Lorena Azócar , et al. · 2019

Gallstones Disease (GSD) is one of the most common digestive diseases requiring hospitalization and surgical procedures in the world. GSD has a high prevalence in populations with European or Amerindian ancestry (10-20%) and the influence …

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