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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
#1
Madunil Anuk Niriella, Arunasalam Pathmeswaran, Shamila Thivanshi De Silva, Anuradhani Kasturiratna, Ruwan Perera, Chamila Erandaka Subasinghe, Kuleesha Kodisinghe, Chathura Piyaratna, Vithiya Rishikesawan, Anuradha Supun Dassanayaka, Arjuna Priyadarshin De Silva, Rajitha Wickramasinghe, Fumihiko Takeuchi, Norihiro Kato, Hithanadura Janaka de Silva
BACKGROUND: This study investigated incidence and risk factors for NAFLD among an adult cohort with 7-years 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28245087/hepatic-nucleotide-binding-oligomerization-domain-like-receptors-pyrin-domain-containing-3-inflammasomes-are-associated-with-the-histologic-severity-of-non-alcoholic-fatty-liver-disease
#13
Hironori Mitsuyoshi, Kohichiroh Yasui, Tasuku Hara, Hiroyoshi Taketani, Hiroshi Ishiba, Akira Okajima, Yuya Seko, Atsushi Umemura, Taichiro Nishikawa, Kanji Yamaguchi, Michihisa Moriguchi, Masahito Minami, Yoshito Itoh
AIM: To examine the role of nucleotide binding oligomerization domain-like receptor family pyrin domain-containing 3 (NLRP3) inflammasomes in the development of non-alcoholic fatty liver disease (NAFLD). METHODS: Levels of mRNAs encoding NLRP3, apoptosis-associated speck-like protein containing a caspase recruitment domain, procaspase-1, interleukin (IL)-1β, and IL-18 were quantified by real-time polymerase chain reaction in 91 liver samples and 37 blood samples from biopsy-proven patients with NAFLD...
February 28, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28182609/genetic-polymorphisms-associated-with-liver-disease-progression-in-hiv-hcv-coinfected-patients
#14
REVIEW
Luz M Medrano, María A Jiménez-Sousa, Amanda Fernández-Rodríguez, Salvador Resino
The pathogenic mechanisms of the accelerated progression of liver injury in HIV/HCV coinfection are incompletely understood. The progression of liver disease is variable between individuals having similar risk factors, suggesting that genetic background is an important contributor. The aim of this review is to give a summary of all single nucleotide polymorphisms associated with the severity of liver disease in patients coinfected with HIV and HCV reported in the literature. Therefore, a systematic search for articles published was made, 17 of which were selected for this review...
January 2017: AIDS Reviews
https://www.readbyqxmd.com/read/28161471/homozygosity-for-rs738409-g-in-pnpla3-is-associated-with-increased-mortality-following-an-episode-of-severe-alcoholic-hepatitis
#15
Stephen R Atkinson, Michael J Way, Andrew McQuillin, Marsha Y Morgan, Mark R Thursz
BACKGROUND & AIMS: Carriage of rs738409:G in PNPLA3 is associated with an increased risk of developing alcohol-related cirrhosis and has a significant negative effect on survival. Short-term mortality in patients with severe alcoholic hepatitis is high; drinking behaviour is a major determinant of outcome in survivors. The aim of this study was to determine whether carriage of rs738409:G has an additional detrimental effect on survival in this patient group. METHODS: Genotyping was undertaken in 898 cases with severe alcoholic hepatitis, recruited through the UK Steroids or Pentoxifylline for Alcoholic Hepatitis (STOPAH) trial, and 1188 White British/Irish alcohol dependent controls with no liver injury, recruited via University College London...
February 2, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28126321/-not-all-forms-of-nafld-were-created-equal-do-metabolic-syndrome-related-nafld-and-pnpla3-related-nafld-exert-a-variable-impact-on-the-risk-of-early-carotid-atherosclerosis
#16
EDITORIAL
Amedeo Lonardo, Stefano Ballestri, Giovanni Targher
No abstract text is available yet for this article.
February 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28109005/the-membrane-bound-o-acyltransferase-domain-containing-7-variant-rs641738-increases-inflammation-and-fibrosis-in-chronic-hepatitis-b
#17
Khaled Thabet, Henry Lik Yuen Chan, Salvatore Petta, Alessandra Mangia, Thomas Berg, Andre Boonstra, Willem P Brouwer, Maria Lorena Abate, Vincent Wai-Sun Wong, Maiiada Nazmy, Janett Fischer, Christopher Liddle, Jacob George, Mohammed Eslam
Chronic hepatitis B (CHB) is characterized by hepatic inflammation that promotes progression to cirrhosis and predisposes to the development of hepatocellular carcinoma (HCC). Subtle interindividual genetic variation as well as viral and environmental factors interact to determine disease progression between individuals. Recently, the rs641738 membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) polymorphism was demonstrated to influence histological liver damage in alcoholic liver disease, nonalcoholic fatty liver disease, and hepatitis C, but no data are available for CHB...
June 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28090653/genome-wide-study-links-pnpla3-variant-with-elevated-hepatic-transaminase-after-acute-lymphoblastic-leukemia-therapy
#18
Y Liu, C A Fernandez, C Smith, W Yang, C Cheng, J C Panetta, N Kornegay, C Liu, L B Ramsey, S E Karol, L J Janke, E C Larsen, N Winick, W L Carroll, M L Loh, E A Raetz, S P Hunger, M Devidas, J J Yang, C G Mullighan, J Zhang, W E Evans, S Jeha, C-H Pui, M V Relling
Remission induction therapy for acute lymphoblastic leukemia (ALL) includes medications that may cause hepatotoxicity, including asparaginase. We used a genome-wide association study to identify loci associated with elevated alanine transaminase (ALT) levels after induction therapy in children with ALL enrolled on St. Jude Children's Research Hospital (SJCRH) protocols. Germline DNA was genotyped using arrays and exome sequencing. Adjusting for age, body mass index, ancestry, asparaginase preparation, and dosage, the PNPLA3 rs738409 (C>G) I148M variant, previously associated with fatty liver disease risk, had the strongest genetic association with ALT (P = 2...
January 16, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28089502/an-extended-fatty-liver-index-to-predict-non-alcoholic-fatty-liver-disease
#19
K Kantartzis, I Rettig, H Staiger, J Machann, F Schick, L Scheja, A Gastaldelli, E Bugianesi, A Peter, M B Schulze, A Fritsche, H-U Häring, N Stefan
BACKGROUND: In clinical practice, there is a strong interest in non-invasive markers of non-alcoholic fatty liver disease (NAFLD). Our hypothesis was that the fold-change in plasma triglycerides (TG) during a 2-h oral glucose tolerance test (fold-change TGOGTT) in concert with blood glucose and lipid parameters, and the rs738409 C>G single nucleotide polymorphism (SNP) in PNPLA3 might improve the power of the widely used fatty liver index (FLI) to predict NAFLD. METHODS: The liver fat content of 330 subjects was quantified by (1)H-magnetic resonance spectroscopy...
January 12, 2017: Diabetes & Metabolism
https://www.readbyqxmd.com/read/28073161/the-pnpla3-i148m-variant-modulates-the-fibrogenic-phenotype-of-human-hepatic-stellate-cells
#20
Francesca Virginia Bruschi, Thierry Claudel, Matteo Tardelli, Alessandra Caligiuri, Thomas M Stulnig, Fabio Marra, Michael Trauner
The genetic polymorphism I148M of patatin-like phospholipase domain-containing 3 (PNPLA3) is robustly associated with hepatic steatosis and its progression to steatohepatitis, fibrosis, and cancer. Hepatic stellate cells (HSCs) are key players in the development of liver fibrosis, but the role of PNPLA3 and its variant I148M in this process is poorly understood. Here we analyzed the expression of PNPLA3 during human HSC activation and thereby explored how a PNPLA3 variant impacts hepatic fibrogenesis. We show that expression of PNPLA3 gene and protein increases during the early phases of activation and remains elevated in fully activated HSCs (P < 0...
June 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
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