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https://www.readbyqxmd.com/read/28626169/new-discriminant-method-for-identifying-the-aggressive-disease-phenotype-of-non-alcoholic-fatty-liver-disease
#1
Yusuke Kawamura, Kenji Ikeda, Yasuji Arase, Shunichiro Fujiyama, Tetsuya Hosaka, Masahiro Kobayashi, Satoshi Saitoh, Hitomi Sezaki, Norio Akuta, Fumitaka Suzuki, Yoshiyuki Suzuki, Hiromitsu Kumada
Objective To detect the aggressive phenotype (AP) of non-alcoholic fatty liver disease (NAFLD) based on the initial laboratory data and clinical characteristics. Methods We enrolled 144 patients with histologically proven NAFLD. For the first analysis, 24 NAFLD patients underwent repeat biopsy to establish a discriminant formula for predicting the AP of NAFLD (D-APN). The AP was defined by NAFLD that had been maintained or progressed to a fibrotic stage beyond stage 2. In the second analysis, we analyzed the distribution of the AP in each stage of disease and the incidence of the PNPLA3 rs738409 GG genotype in AP in 120 other patients...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28617615/association-between-pnpla3-gene-polymorphisms-and-risk-of-hepatitis-b-virus-related-hepatocellular-carcinoma-in-han-population-in-china-a-case-control-study
#2
Xia Gao, Wenxuan Liu, Lei Yang, Xiaolin Zhang, Ning Ma, Liqin Wang, Lina Yan, Longmei Tang, Haitao Yang, Dianwu Liu
BACKGROUND AND AIM: Several recent studies showed that the genetic polymorphisms in the PNPLA3 region (rs738408, rs738409, rs2294918, rs2294919 and rs2281135) were with related to various kinds of liver diseases. We analyzed the five single-nucleotide polymorphisms (SNPs) for major HBV outcomes in Han Chinese. METHODS: A total of 2410 samples were involved and peripheral blood samples were collected in this study. The SNPs in the PNPLA3 region were genotyped by using Matrix-assisted laser desorption/ionization time of flight mass spectrometry...
June 15, 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28611479/nafld-pnpla3-and-obesity-a-synergistic-relationship-in-nafld
#3
Jake P Mann, Quentin M Anstee
No abstract text is available yet for this article.
June 14, 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28594920/genetic-polymorphisms-associated-with-fatty-liver-disease-and-fibrosis-in-hiv-positive-patients-receiving-combined-antiretroviral-therapy-cart
#4
Leona Dold, Carolin Luda, Carolynne Schwarze-Zander, Christoph Boesecke, Cordula Hansel, Hans-Dieter Nischalke, Philipp Lutz, Raphael Mohr, Jan-Christian Wasmuth, Christian P Strassburg, Jonel Trebicka, Jürgen Kurt Rockstroh, Ulrich Spengler
Hepatic steatosis can occur with any antiretroviral therapy (cART). Although single nucleotide polymorphisms (SNPs) have been identified to predispose to alcoholic and non-alcoholic fatty liver disease, their role for treatment-associated steatosis in HIV-positive patients remains unclear. We determined the frequency of PNPLA3 (rs738409), CSPG3/NCAN (rs2228603), GCKR (rs780094), PPP1R3B (rs4240624), TM6SF (rs8542926), LYPLAL1 (rs12137855) and MBOAT7 (rs626283) by RT-PCR in 117 HIV-positive patients on cART and stratified participants based on their "controlled attenuation parameter" (CAP) into probable (CAP: 215-300 dB/m) and definite (CAP >300 dB/m) hepatic steatosis...
2017: PloS One
https://www.readbyqxmd.com/read/28586091/mutant-pnpla3-i148m-protein-as-pharmacological-target-for-liver-disease
#5
EDITORIAL
Luca Valenti, Paola Dongiovanni
No abstract text is available yet for this article.
June 6, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28574625/patatin-like-phospholipase-domain-containing-3-gene-as-a-liver-steatosis-risk-factor-following-living-donor-liver-transplantation-for-hepatitis-c
#6
Hisamitsu Miyaaki, Satoshi Miuma, Naota Taura, Hidetaka Shibata, Akihiko Soyama, Masaaki Hidaka, Mitsuhisa Takatsuki, Susumu Eguchi, Kazuhiko Nakao
Liver steatosis frequently occurs following liver transplantation (LT) and can affect patient outcome. Here, we aimed to clarify the steatosis and steatohepatitis risk factors that apply after living-donor LT for chronic hepatitis C.We retrospectively examined 43 transplant recipients and donors, and tested for single-nucleotide polymorphisms in the patatin-like phospholipase domain-containing 3 gene (PNPLA3). Liver biopsies taken 1 year after transplantation and yearly thereafter, or when abnormal liver enzyme levels were detected, were examined by histopathology...
June 2, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28555633/low-birthweight-increases-the-likelihood-of-severe-steatosis-in-pediatric-non-alcoholic-fatty-liver-disease
#7
Elisabetta Bugianesi, Carla Bizzarri, Chiara Rosso, Antonella Mosca, Nadia Panera, Silvio Veraldi, Andrea Dotta, Germana Giannone, Massimiliano Raponi, Marco Cappa, Anna Alisi, Valerio Nobili
OBJECTIVES: Small for gestational age (SGA) is associated with an increased risk of non-alcoholic fatty liver disease (NAFLD). Our aim was to investigate the correlation of birthweight with the severity of liver damage in a large cohort of children with NAFLD. METHODS: Two hundred and eighty-eight consecutive Caucasian Italian overweight/obese children with biopsy-proven NAFLD were included in the study. We examined the relative association of each histological feature of NAFLD with metabolic alterations, insulin-resistance, I148M polymorphism in the patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene, and birthweight relative to gestational age...
May 30, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28554682/liver-and-cardiovascular-damage-in-patients-with-lean-nonalcoholic-fatty-liver-disease-and-association-with-visceral-obesity
#8
Anna Ludovica Fracanzani, Salvatore Petta, Rosa Lombardi, Giuseppina Pisano, Maurizio Russello, Dario Consonni, Vito Di Marco, Calogero Cammà, Laura Mensi, Paola Dongiovanni, Luca Valenti, Antonio Craxì, Silvia Fargion
BACKGROUND & AIMS: Lean nonalcoholic fatty liver disease (NAFLD) is defined as NAFLD that develops in patients with a body mass index (BMI) less than 25 kg/m(2). We investigated the differences between lean NAFLD and NAFLD in overweight and obese persons, factors associated with the severity of liver and cardiovascular disease, and the effects of visceral obesity. METHODS: We performed a retrospective cohort study of 669 consecutive patients with biopsy-proven NAFLD seen at 3 liver centers in Italy...
May 26, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28544258/incidence-and-risk-factors-for-non-alcoholic-fatty-liver-disease-a-7-year-follow-up-study-among-urban-adult-sri-lankans
#9
Madunil A Niriella, Arunasalam Pathmeswaran, Shamila T De Silva, Anuradhani Kasturiratna, Ruwan Perera, Chamila E Subasinghe, Kuleesha Kodisinghe, Chathura Piyaratna, Vithiya Rishikesawan, Anuradha S Dassanayaka, Arjuna P De Silva, Rajitha Wickramasinghe, Fumihiko Takeuchi, Norihiro Kato, Hithanadura J de Silva
BACKGROUND: This study investigated incidence and risk factors for NAFLD among an adult cohort with 7-year follow-up. METHODS: The study population (age-stratified random sampling, Ragama MOH area) was screened initially in 2007 (aged 35-64 years) and re-evaluated in 2014 (aged 42-71 years). On both occasions assessed by structured interview, anthropometric measurements, liver ultrasound, biochemical and serological tests. NAFLD was diagnosed on ultrasound criteria, safe alcohol consumption and absence of hepatitis B/C markers...
May 19, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28520213/the-pnpla3-variant-associated-with-fatty-liver-disease-i148m-accumulates-on-lipid-droplets-by-evading-ubiquitylation
#10
Soumik BasuRay, Eriks Smagris, Jonathan C Cohen, Helen H Hobbs
A sequence variation (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is strongly associated with fatty liver disease (FLD), but the underlying mechanism remains obscure. Here we used knock-in (KI) mice (Pnpla3(148M/M) ) to examine the mechanism responsible for accumulation of triglyceride (TG) and PNPLA3 in hepatic lipid droplets (LDs). No differences were found between Pnpla3(148M/M) and Pnpla3(+/+) mice in hepatic TG synthesis, utilization, or secretion. These results are consistent with TG accumulation in the Pnpla3(148M/M) mice being caused by impaired TG mobilization from LDs...
May 18, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28497593/polymorphism-of-receptor-type-tyrosine-protein-phosphatase-delta-gene-in-the-development-of-non-alcoholic-fatty-liver-disease
#11
Shunsuke Nakajima, Hiroki Tanaka, Koji Sawada, Hidemi Hayashi, Takumu Hasebe, Masami Abe, Chitomi Hasebe, Mikihiro Fujiya, Toshikatsu Okumura
BACKGROUND AND AIM: Some single nucleotide polymorphisms (SNPs) are associated with the development of non-alcoholic fatty liver disease (NAFLD). As one of the genetic factors, PNPLA3 rs738409 (I148M) is important to associate with pathogenesis of NAFLD. Since other SNPs remain unclear in Japan, we performed high-throughput sequencing, which targeted more than 1,000 genes to identify a novel genetic variant in Japanese patients with NAFLD. METHODS: The present study in 36 NAFLD patients and 27 healthy volunteers (HVs) was performed...
May 11, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28452211/erratum-pathophysiology-and-management-of-alcoholic-liver-disease-update-2016
#12
Felix Stickel, Christian Datz, Jochen Hampe, Ramon Bataller
Page 178, Fig. 3: The following note should be included as the last line of the figure legend: "The figure has been adapted from its original published in He S, et al. A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J Biol Chem 2010;285:6706-6715.
May 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28436986/adiposity-amplifies-the-genetic-risk-of-fatty-liver-disease-conferred-by-multiple-loci
#13
Stefan Stender, Julia Kozlitina, Børge G Nordestgaard, Anne Tybjærg-Hansen, Helen H Hobbs, Jonathan C Cohen
Complex traits arise from the interplay between genetic and environmental factors. The actions of these factors usually appear to be additive, and few compelling examples of gene-environment synergy have been documented. Here we show that adiposity significantly amplifies the effect of three sequence variants (encoding PNPLA3 p.I148M, TM6SF2 p.E167K, and GCKR p.P446L) associated with nonalcoholic fatty liver disease (NAFLD). Synergy between adiposity and genotype promoted the full spectrum of NAFLD, from steatosis to hepatic inflammation to cirrhosis...
June 2017: Nature Genetics
https://www.readbyqxmd.com/read/28433418/binge-alcohol-alters-pnpla3-levels-in-liver-through-epigenetic-mechanism-involving-histone-h3-acetylation
#14
REVIEW
Ricardo J Restrepo, Robert W Lim, Ronald J Korthuis, Shivendra D Shukla
The human PNPLA3 (patatin-like phospholipase domain-containing 3) gene codes for a protein which is highly expressed in adipose tissue and liver, and is implicated in lipid homeostasis. While PNPLA3 protein contains regions homologous to functional lipolytic proteins, the regulation of its tissue expression is reflective of lipogenic genes. A naturally occurring genetic variant of PNPLA3 in humans has been linked to increased susceptibility to alcoholic liver disease. We have examined the modulatory effect of alcohol on PNPLA3 protein and mRNA expression as well as the association of its gene promoter with acetylated histone H3K9 by chromatin immunoprecipitation (ChIP) assay in rat hepatocytes in vitro, and in vivo in mouse and rat models of acute binge, chronic, and chronic followed by acute binge ethanol administration...
May 2017: Alcohol
https://www.readbyqxmd.com/read/28362682/genetic-determinants-of-circulating-lipoproteins-in-nonalcoholic-fatty-liver-disease
#15
Zhenghui G Jiang, Elliot B Tapper, Misung Kim, Margery A Connelly, Sarah A Krawczyk, Eric U Yee, Mark A Herman, Kenneth J Mukamal, Michelle Lai
BACKGROUND: Recent genome-wide association studies have identified 2 genetic polymorphisms in association with nonalcoholic fatty liver disease (NAFLD): patatin-like phospholipase domain containing 3 (PNPLA3) and transmembrane 6 superfamily member 2 (TM6SF2), both of which appear to influence the production of very low density lipoprotein (VLDL). The impact of these genetic variations on lipoprotein metabolism in the setting of nonalcoholic steatohepatitis and liver fibrosis are not fully characterized...
March 30, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28338112/pnpla3-and-rnf7-gene-variants-are-associated-with-the-risk-of-developing-liver-fibrosis-and-cirrhosis-in-an-eastern-european-population
#16
Juozas Kupcinskas, Irena Valantiene, Greta Varkalaitė, Ruta Steponaitiene, Jurgita Skieceviciene, Jolanta Sumskiene, Vitalija Petrenkiene, Jurate Kondrackiene, Gediminas Kiudelis, Frank Lammert, Limas Kupcinskas
BACKGROUND AND AIMS: Genome-wide association studies have revealed an association between the risk of developing liver fibrosis or cirrhosis and the single nucleotide polymorphisms (SNPs) of the PNPLA3, RNF7, MERTK and PCSK7 genes. We aimed to validate these results in an Eastern European population. METHODS: We evaluated the associations between the PNPLA3 (rs738409), RNF7 (rs16851720), MERTK (rs4374383) and PCSK7 (rs236918) variants and liver fibrosis and cirrhosis in a series of consecutive patients recruited at the Department of Gastroenterology, Lithuanian University of Health Sciences Hospital, during the period 2012-2015...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28303724/non-alcoholic-fatty-liver-disease-nafld-pathogenesis-classification-and-effect-on-drug-metabolizing-enzymes-and-transporters
#17
Enoch Cobbina, Fatemeh Akhlaghi
Non-alcoholic fatty liver disease (NAFLD) is a spectrum of liver disorders. It is defined by the presence of steatosis in more than 5% of hepatocytes with little or no alcohol consumption. Insulin resistance, the metabolic syndrome or type 2 diabetes and genetic variants of PNPLA3 or TM6SF2 seem to play a role in the pathogenesis of NAFLD. The pathological progression of NAFLD follows tentatively a "three-hit" process namely steatosis, lipotoxicity and inflammation. The presence of steatosis, oxidative stress and inflammatory mediators like TNF-α and IL-6 has been implicated in the alterations of nuclear factors such as CAR, PXR, PPAR-α in NAFLD...
March 17, 2017: Drug Metabolism Reviews
https://www.readbyqxmd.com/read/28290069/significance-of-genetic-polymorphisms-in-patients-with-nonalcoholic-fatty-liver-disease
#18
REVIEW
Hisamitsu Miyaaki, Kazuhiko Nakao
Because of recent advances in genetic research such as genome-wide association studies, the underlying genetic mechanisms of nonalcoholic fatty liver disease (NAFLD) pathophysiology have been elucidated. Here, we present a review of the current literature on the impact of genetic polymorphisms in patients with NAFLD. These genetic polymorphisms, which regulate lipid metabolism, glucose metabolism, and the renin-angiotensin system, are involved in NAFLD onset, steatosis, inflammation, fibrosis, and hepatocellular carcinoma (HCC)...
June 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28266614/a-multi-component-classifier-for-nonalcoholic-fatty-liver-disease-nafld-based-on-genomic-proteomic-and-phenomic-data-domains
#19
G Craig Wood, Xin Chu, George Argyropoulos, Peter Benotti, David Rolston, Tooraj Mirshahi, Anthony Petrick, John Gabrielson, David J Carey, Johanna K DiStefano, Christopher D Still, Glenn S Gerhard
Non-alcoholic fatty liver disease (NAFLD) represents a spectrum of conditions that include steatohepatitis and fibrosis that are thought to emanate from hepatic steatosis. Few robust biomarkers or diagnostic tests have been developed for hepatic steatosis in the setting of obesity. We have developed a multi-component classifier for hepatic steatosis comprised of phenotypic, genomic, and proteomic variables using data from 576 adults with extreme obesity who underwent bariatric surgery and intra-operative liver biopsy...
March 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28253210/the-association-of-nonalcoholic-fatty-liver-disease-with-genetic-polymorphisms-a-multicenter-study
#20
Ahmet Uygun, Kadir Ozturk, Hakan Demirci, Ali Oztuna, Fatih Eren, Salih Kozan, Yusuf Yilmaz, Omer Kurt, Turker Turker, Sezgin Vatansever, Emrah Alper, Belkis Unsal
INTRODUCTION: Growing evidence suggests that multiple factors, such as insulin resistance, nutritional factors, gut microbiota, and hormones released from the adipose tissue, act together on genetically predisposed individuals. We aimed to investigate whether various single-nucleotide polymorphisms (SNPs) play a role in the development of nonalcoholic fatty liver disease (NAFLD) and severity of liver damage in the Anatolian population. METHODS: Two hundred and sixteen patients with biopsy-proven NAFLD and 150 control participants, aged 18-70 years, were consecutively enrolled in this multicenter study...
April 2017: European Journal of Gastroenterology & Hepatology
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