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https://www.readbyqxmd.com/read/27899914/how-useful-are-monogenic-rodent-models-for-the-study-of-human-non-alcoholic-fatty-liver-disease
#1
REVIEW
Jake P Mann, Robert K Semple, Matthew J Armstrong
Improving understanding of the genetic basis of human non-alcoholic fatty liver disease (NAFLD) has the potential to facilitate risk stratification of affected patients, permit personalized treatment, and inform development of new therapeutic strategies. Animal models have been widely used to interrogate the pathophysiology of, and genetic predisposition to, NAFLD. Nevertheless, considerable interspecies differences in intermediary metabolism potentially limit the extent to which results can be extrapolated to humans...
2016: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/27836992/combined-effects-of-the-tm6sf2-rs58542926-pnpla3-rs738409-and-mboat7-rs641738-variants-on-nafld-severity-multicentre-biopsy-based-study
#2
Marcin Krawczyk, Monika Rau, Jörn M Schattenberg, Heike Bantel, Anita Pathil, Münevver Demir, Johannes Kluwe, Tobias Boettler, Frank Lammert, Andreas Geier
BACKGROUND AND AIMS: The PNPLA3 p.I148M and TM6SF2 p.E167K and MBOAT7 rs641738 variants represent genetic risk factors for non-alcoholic fatty liver disease (NAFLD). Here we investigate if these polymorphisms modulate both steatosis and fibrosis in NAFLD patients. PATIENTS AND METHODS: We recruited 515 patients with NAFLD (age 16-88 years, 280 females). In 320 patients liver biopsies were performed. PCR-based assays were used to genotype the PNPLA3, TM6SF2, and MBOAT7 variants...
November 11, 2016: Journal of Lipid Research
https://www.readbyqxmd.com/read/27784963/tm6sf2-e167k-variant-predicts-severe-liver-fibrosis-for-human-immunodeficiency-hepatitis-c-virus-co-infected-patients-and-severe-steatosis-only-for-a-non-3-hepatitis-c-virus-genotype
#3
Caterina Sagnelli, Marco Merli, Caterina Uberti-Foppa, Hamid Hasson, Anna Grandone, Grazia Cirillo, Stefania Salpietro, Carmine Minichini, Mario Starace, Emanuela Messina, Patrizia Morelli, Emanuele Miraglia Del Giudice, Adriano Lazzarin, Nicola Coppola, Evangelista Sagnelli
AIM: To evaluate the impact of the Glu167Lys (E167K) transmembrane 6 superfamily member 2 (TM6SF2) variant on the biochemical and morphologic expression of liver lesions in human immunodeficiency virus (HIV)/hepatitis C virus (HCV) co-infected patients. METHODS: The study comprised 167 consecutive patients with HIV/HCV coinfection and biopsy-proven chronic hepatitis. A pathologist graded liver fibrosis and necroinflammation using the Ishak scoring system, and steatosis using Kleiner's scoring system...
October 14, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27627804/epicardial-adipose-tissue-eat-thickness-is-associated-with-cardiovascular-and-liver-damage-in-nonalcoholic-fatty-liver-disease
#4
Anna Ludovica Fracanzani, Giuseppina Pisano, Dario Consonni, Silvia Tiraboschi, Andrea Baragetti, Cristina Bertelli, Giuseppe Danilo Norata, Paola Dongiovanni, Luca Valenti, Liliana Grigore, Tatiana Tonella, Alberico Catapano, Silvia Fargion
BACKGROUND AND AIMS: Epicardial adipose tissue (EAT) has been proposed as a cardiometabolic and hepatic fibrosis risk factor in patients with non alcoholic fatty liver disease (NAFLD). Aim of this study was to evaluate the role of EAT in NAFLD by analyzing 1) the association between EAT, the other metabolic parameters and the severity of steatosis 2) the relationship between cardiovascular (cIMT, cplaques, E/A), liver (presence of NASH and significant fibrosis) damage and metabolic risk factors including EAT 3) the relationship between EAT and genetic factors strongly influencing liver steatosis...
2016: PloS One
https://www.readbyqxmd.com/read/27576208/pnpla3-p-i148m-variant-is-associated-with-greater-reduction-of-liver-fat-content-after-bariatric-surgery
#5
Marcin Krawczyk, Raúl Jiménez-Agüero, José M Alustiza, José I Emparanza, María J Perugorria, Luis Bujanda, Frank Lammert, Jesús M Banales
BACKGROUND: Obesity is the major trigger of nonalcoholic fatty liver disease (NAFLD). NAFLD is further favored by the patatin-like phospholipase domain-containing 3 (PNPLA3) p.I148M, transmembrane 6 superfamily member 2 (TM6SF2) p.E167K, and membrane-bound O-acyltransferase domain containing 7 (MBOAT7) rs641738 variants. OBJECTIVES: To investigate the relationship between the PNPLA3, TM6SF2, and MBOAT7 genotypes and the outcomes of bariatric surgery. SETTING: University hospital...
July 1, 2016: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/27575312/the-genetics-of-alcohol-dependence-and-alcohol-related-liver-disease
#6
Felix Stickel, Christophe Moreno, Jochen Hampe, Marsha Y Morgan
The susceptibility to develop alcohol dependence and significant alcohol-related liver injury is determined by a number of constitutional, environmental and genetic factors, although the nature and level of interplay between them remains unclear. The familiarity and heritability of alcohol dependence is well-documented but, to date, no strong candidate genes have emerged with the exception of variants in alcohol dehydrogenase and acetaldehyde dehydrogenase, which confer protection predominantly in individuals of East Asian ancestry...
August 26, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27547017/genetic-factors-that-affect-nonalcoholic-fatty-liver-disease-a-systematic-clinical-review
#7
Tyler J Severson, Siddesh Besur, Herbert L Bonkovsky
AIM: To investigate roles of genetic polymorphisms in non-alcoholic fatty liver disease (NAFLD) onset, severity, and outcome through systematic literature review. METHODS: The authors conducted both systematic and specific searches of PubMed through December 2015 with special emphasis on more recent data (from 2012 onward) while still drawing from more historical data for background. We identified several specific genetic polymorphisms that have been most researched and, at this time, appear to have the greatest clinical significance on NAFLD and similar hepatic diseases...
August 7, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27532011/additive-effects-of-the-risk-alleles-of-pnpla3-and-tm6sf2-on-non-alcoholic-fatty-liver-disease-nafld-in-a-chinese-population
#8
Xiaoliang Wang, Zhipeng Liu, Kai Wang, Zhaowen Wang, Xing Sun, Lin Zhong, Guilong Deng, Guohe Song, Baining Sun, Zhihai Peng, Wanqing Liu
Recent genome-wide association studies have identified that variants in or near PNPLA3, NCAN, GCKR, LYPLAL1, and TM6SF2 are significantly associated with non-alcoholic fatty liver disease (NAFLD) in multiple ethnic groups. Studies on their impact on NAFLD in Han Chinese are still limited. In this study, we examined the relevance of these variants to NAFLD in a community-based Han Chinese population and further explored their potential joint effect on NAFLD. Six single nucleotide polymorphisms (SNPs) (PNPLA3 rs738409, rs2294918, NCAN rs2228603, GCKR rs780094, LYPLAL1 rs12137855, and TM6SF2 rs58542926) previously identified in genome-wide analyses, to be associated with NAFLD were genotyped in 384 NAFLD patients and 384 age- and gender-matched healthy controls...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27432073/non-alcoholic-fatty-liver-disease-and-risk-of-type-2-diabetes
#9
REVIEW
S Lallukka, H Yki-Järvinen
Non-alcoholic fatty liver disease (NAFLD) covers a spectrum of liver disease from simple steatosis to non-alcoholic steatohepatitis (NASH) and cirrhosis. NAFLD is commonly associated with features of the metabolic/insulin resistance syndrome ('Metabolic/Obese NAFLD') and may therefore predict type 2 diabetes (T2DM). For this review, we searched for prospective studies examining whether NAFLD predicts T2DM, and if so, whether this occurs independently of factors such as age and obesity. These studies included NAFLD diagnosed by ultrasonography (n = 6) or liver enzymes (n = 14)...
June 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27417217/variants-in-the-autophagy-related-gene-irgm-confer-susceptibility-to-non-alcoholic-fatty-liver-disease-by-modulating-lipophagy
#10
Yu-Cheng Lin, Pi-Feng Chang, Hsueh-Fang Lin, Kevin Liu, Mei-Hwei Chang, Yen-Hsuan Ni
BACKGROUND & AIMS: Autophagy has been shown to be crucial in the regulation of the intracellular lipid stores in hepatocytes. We hypothesize that immunity-related GTPase family M (IRGM) gene (an autophagy-related gene) variants confer the susceptibility to non-alcoholic fatty liver disease (NAFLD) development. METHODS: 832 obese children and adolescents aged 6-18years were recruited. NAFLD was determined by liver ultrasonography. We genotyped PNPLA3 rs738409, GCKR rs780094, TM6SF2 rs58542926, six IRGM single nucleotide polymorphisms (rs13361189, rs9637876, rs72553867, rs10065172, rs1000113, and rs11747270)...
July 12, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27411039/association-of-mboat7-gene-variant-with-plasma-alt-levels-in-children-the-panic-study
#11
Viitasalo Anna, Eloranta Aino-Maija, Atalay Mustafa, Romeo Stefano, Pihlajamäki Jussi, Lakka Timo A
BackgroundWe studied for the first time among children differences in plasma alanine aminotransferase (ALT) among genotypes of the rs641738 polymorphism in the MBOAT7 gene that has been associated with increased risk of non-alcoholic fatty liver disease among adults. We also investigated the associations of a genetic risk score combining information from the MBOAT7, PNPLA3 and TM6SF2 polymorphisms with plasma ALT.MethodsWe performed a 2-year follow-up study in 467 Caucasian children aged 6-9 years, genotyped the MBOAT7, PNPLA3 and TM6SF2 polymorphisms, calculated a genetic risk score from these polymorphisms (scored 0-3) and assessed plasma ALT...
July 13, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27377717/pharmacogenomic-and-personalized-approaches-to-tackle-the-nonalcoholic-fatty-liver-disease
#12
Gregor Lorbek, Žiga Urlep, Damjana Rozman
Nonalcoholic fatty liver disease (NAFLD) is a raising liver disease with increasing prevalence due to the epidemics of obesity and diabetes, with end points in cirrhosis or hepatocellular carcinoma. A multitude of genetic and metabolic perturbations, together with environmental factors, likely drive the disease. However, to date only a few genes, primarily PNPLA3 and TM6SF2, associate with NAFLD and there is no specific treatment. In this review we focus on the therapeutical aspects of NAFLD, taking into account drugs and lifestyle interventions...
July 5, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27374784/current-status-and-future-directions-on-research-related-to-non-alcoholic-fatty-liver-disease
#13
Wasco Wruck, Nina Graffmann, Marie-Ann Kawala, James Adjaye
Considered a feature of the metabolic syndrome, non-alcoholic fatty liver disease (NAFLD), is associated with insulin resistance, type 2 diabetes, obesity and drug toxicity. Its prevalence is estimated at about 30% in western countries mainly due to sedentary life styles and high fat diets. Genome-wide association studies (GWAS) have identified polymorphisms in several genes, e.g. PNPLA3, and TM6SF2 which confer susceptibility to NAFLD. Here, we review recent findings in the NAFLD field with a particular focus on published transcriptomics datasets which we subject to a meta-analysis...
July 4, 2016: Stem Cells
https://www.readbyqxmd.com/read/27278285/meta-analysis-of-the-influence-of-tm6sf2-e167k-variant-on-plasma-concentration-of-aminotransferases-across-different-populations-and-diverse-liver-phenotypes
#14
Silvia Sookoian, Carlos J Pirola
A nonsynonymous E167K (rs58542926 C/T) variant in TM6SF2 gene was recently associated with nonalcoholic fatty liver disease (NAFLD). We explored the association between E167K and plasma concentrations of alanine (ALT) and aspartate (AST) aminotransferases through a meta-analysis. We also estimated the strength of the effect across diverse liver phenotypes, including NAFLD and chronic viral hepatitis; fourteen studies were included. We found that ALT (p = 3.2 × 10(-6), n = 94,414) and AST (p = 0007, n = 93,809) levels were significantly associated with rs58542926 in NAFLD...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27247565/the-pathogenesis-of-nonalcoholic-fatty-liver-disease-interplay-between-diet-gut-microbiota-and-genetic-background
#15
REVIEW
Jinsheng Yu, Sharon Marsh, Junbo Hu, Wenke Feng, Chaodong Wu
Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in the world, and it comprises a spectrum of hepatic abnormalities from simple hepatic steatosis to steatohepatitis, fibrosis, cirrhosis, and liver cancer. While the pathogenesis of NAFLD remains incompletely understood, a multihit model has been proposed that accommodates causal factors from a variety of sources, including intestinal and adipose proinflammatory stimuli acting on the liver simultaneously. Prior cellular and molecular studies of patient and animal models have characterized several common pathogenic mechanisms of NAFLD, including proinflammation cytokines, lipotoxicity, oxidative stress, and endoplasmic reticulum stress...
2016: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/27235307/childhood-predictors-of-adult-fatty-liver-the-cardiovascular-risk-in-young-finns-study
#16
Emmi Suomela, Mervi Oikonen, Niina Pitkänen, Ari Ahola-Olli, Johanna Virtanen, Riitta Parkkola, Eero Jokinen, Tomi Laitinen, Nina Hutri-Kähönen, Mika Kähönen, Terho Lehtimäki, Leena Taittonen, Päivi Tossavainen, Antti Jula, Britt-Marie Loo, Vera Mikkilä, Risto Telama, Jorma S A Viikari, Markus Juonala, Olli T Raitakari
BACKGROUND & AIMS: Fatty liver is a potentially preventable cause of serious liver diseases. This longitudinal study aimed to identify childhood risk factors of fatty liver in adulthood in a population-based group of Finnish adults. METHODS: Study cohort included 2,042 individuals from the Cardiovascular Risk in Young Finns Study aged 3-18years at baseline in 1980. During the latest follow-up in 2011, the liver was scanned by ultrasound. In addition to physical and environmental factors related to fatty liver, we examined whether the genetic risk posed by a single nucleotide polymorphism in the patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) (rs738409) strengthens prediction of adult fatty liver...
October 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27206982/sugp1-is-a-novel-regulator-of-cholesterol-metabolism
#17
Mee J Kim, Chi-Yi Yu, Elizabeth Theusch, Devesh Naidoo, Kristen Stevens, Yu-Lin Kuang, Erin Schuetz, Amarjit S Chaudhry, Marisa W Medina
A large haplotype on chromosome 19p13.11 tagged by rs10401969 in intron 8 of SURP and G patch domain containing 1 (SUGP1) is associated with coronary artery disease (CAD), plasma LDL cholesterol levels, and other energy metabolism phenotypes. Recent studies have suggested that TM6SF2 is the causal gene within the locus, but we postulated that this locus could harbor additional CAD risk genes, including the putative splicing factor SUGP1 Indeed, we found that rs10401969 regulates SUGP1 exon 8 skipping, causing non-sense-mediated mRNA decay...
May 20, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27128911/definitions-of-normal-liver-fat-and-the-association-of-insulin-sensitivity-with-acquired-and-genetic-nafld-a-systematic-review
#18
REVIEW
Elina M Petäjä, Hannele Yki-Järvinen
Non-alcoholic fatty liver disease (NAFLD) covers a spectrum of disease ranging from simple steatosis (NAFL) to non-alcoholic steatohepatitis (NASH) and fibrosis. "Obese/Metabolic NAFLD" is closely associated with obesity and insulin resistance and therefore predisposes to type 2 diabetes and cardiovascular disease. NAFLD can also be caused by common genetic variants, the patatin-like phospholipase domain-containing 3 (PNPLA3) or the transmembrane 6 superfamily member 2 (TM6SF2). Since NAFL, irrespective of its cause, can progress to NASH and liver fibrosis, its definition is of interest...
2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27013658/inactivation-of-tm6sf2-a-gene-defective-in-fatty-liver-disease-impairs-lipidation-but-not-secretion-of-very-low-density-lipoproteins
#19
Eriks Smagris, Shenise Gilyard, Soumik BasuRay, Jonathan C Cohen, Helen H Hobbs
A missense mutation (E167K) in TM6SF2 (transmembrane 6 superfamily member 2), a polytopic protein of unknown function, is associated with the full spectrum of fatty liver disease. To investigate the role of TM6SF2 in hepatic triglyceride (TG) metabolism, we inactivated the gene in mice. Chronic inactivation of Tm6sf2 in mice is associated with hepatic steatosis, hypocholesterolemia, and transaminitis, thus recapitulating the phenotype observed in humans. No dietary challenge was required to elicit the phenotype...
May 13, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26978356/bidirectional-relationships-and-disconnects-between-nafld-and-features-of-the-metabolic-syndrome
#20
REVIEW
Patrick Wainwright, Christopher D Byrne
Non-alcoholic fatty liver disease (NAFLD) represents a wide spectrum of liver disease from simple steatosis, to steatohepatitis, (both with and without liver fibrosis), cirrhosis and end-stage liver failure. NAFLD also increases the risk of hepatocellular carcinoma (HCC) and both HCC and end stage liver disease may markedly increase risk of liver-related mortality. NAFLD is increasing in prevalence and is presently the second most frequent indication for liver transplantation. As NAFLD is frequently associated with insulin resistance, central obesity, dyslipidaemia, hypertension and hyperglycaemia, NAFLD is often considered the hepatic manifestation of the metabolic syndrome...
2016: International Journal of Molecular Sciences
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