keyword
MENU ▼
Read by QxMD icon Read
search

Pnpla3

keyword
https://www.readbyqxmd.com/read/27908400/low-hepatic-copper-content-and-pnpla3-polymorphism-in-non-alcoholic-fatty-liver-disease-in-patients-without-metabolic-syndrome
#1
Albert Friedrich Stättermayer, Stefan Traussnigg, Elmar Aigner, Christian Kienbacher, Ursula Huber-Schönauer, Petra Steindl-Munda, Andreas Stadlmayr, Friedrich Wrba, Michael Trauner, Christian Datz, Peter Ferenci
INTRODUCTION: The pathogenesis of non-alcoholic fatty liver disease (NAFLD) is multifactorial including metabolic, genetic (e.g. PNPLA3 [patatin-like phospholipase domain-containing 3 gene]), viral factors and drugs. Besides, there is evidence for a role of copper deficiency. Aim of the study was to evaluate the role of hepatic copper content, PNPLA3 in NAFLD patients with and without metabolic syndrome (MetS). METHODS: One-hundred seventy-four NAFLD patients, who underwent liver biopsy for diagnostic work-up, were studied...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27905898/physical-activity-and-sedentary-behavior-can-modulate-the-effect-of-the-pnpla3-variant-on-childhood-nafld-a-case-control-study-in-a-chinese-population
#2
Shuo Wang, Jieyun Song, Xiaorui Shang, Nitesh Chawla, Yide Yang, Xiangrui Meng, Haijun Wang, Jun Ma
BACKGROUND: The patatin like phospholipase containing domain 3 gene (PNPLA3) rs738409 C > G polymorphism, one of the most important gene polymorphisms involved in hepatic steatosis, has been reported to interact with different nutrients and dietary patterns on Non-Alcoholic Fatty Liver Disease (NAFLD), but no studies have focused on its interaction with physical activity or sedentary behavior. Therefore, this study aims at determining whether physical activity or sedentary behavior could modulate the effect of the PNPLA3 variant on childhood NAFLD...
December 1, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27899914/how-useful-are-monogenic-rodent-models-for-the-study-of-human-non-alcoholic-fatty-liver-disease
#3
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/27889599/patatin-like-phospholipase-domain-containing-protein-3-pnpla3-a-potential-role-in-the-association-between-liver-disease-and-bipolar-disorder
#4
Aileen Kenneson, Jennifer S Funderburk
OBJECTIVE: Due to the increased prevalence of liver disease in patients with bipolar disorder, we examined the potential role of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) variant among individuals with bipolar disorder and those with no mood disorder. METHODS: We used the National Health and Nutrition Examination Survey (NHANES) database (aged 15-39 years) to identify a group of individuals with a bipolar diagnosis and a control group of individuals with no mood disorder...
November 22, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27888630/the-association-of-variants-in-pnpla3-and-grp78-and-the-risk-of-developing-hepatocellular-carcinoma-in-an-italian-population
#5
Daniele Balasus, Michael Way, Caterina Fusilli, Tommaso Mazza, Marsha Y Morgan, Melchiorre Cervello, Lydia Giannitrapani, Maurizio Soresi, Rosalia Agliastro, Manlio Vinciguerra, Giuseppe Montalto
Hepatocellular carcinoma (HCC) has one of the worst prognoses amongst all malignancies. It commonly arises in patients with established liver disease and the diagnosis often occurs at an advanced stage. Genetic variations, such as single nucleotide polymorphisms (SNPs), may alter disease risk and thus may have use as predictive markers of disease outcome. The aims of this study were (i) to assess the association of two SNPs, rs430397 in GRP78 and rs738409 in PNPLA3 with the risk of developing HCC in a Sicilian association cohort and, (ii) to use a machine learning technique to establish a predictive combinatorial phenotypic model for HCC including rs430397 and rs738409 genotypes and clinical and laboratory attributes...
November 24, 2016: Oncotarget
https://www.readbyqxmd.com/read/27862719/development-of-hepatocellular-carcinoma-in-japanese-patients-with-biopsy-proven-nonalcoholic-fatty-liver-disease-in-relation-to-pnpla3-genotype-and-hepatocarcinogenesis-fibrosis-progression
#6
Yuya Seko, Yoshio Sumida, Saiyu Tanaka, Kojiroh Mori, Hiroyoshi Taketani, Hiroshi Ishiba, Tasuku Hara, Akira Okajima, Atsushi Umemura, Taichiro Nishikawa, Kanji Yamaguchi, Michihisa Moriguchi, Kazuyuki Kanemasa, Kohichiroh Yasui, Shunsuke Imai, Keiji Shimada, Yoshito Itoh
BACKGROUND: Some patients with nonalcoholic fatty liver disease (NAFLD) develop hepatocellular carcinoma (HCC). PNPLA3 rs738409 (encoding the I148M variant) has been associated with advanced fibrosis and HCC. We determined the risk factors for HCC, including the PNPLA3 rs738409 polymorphism, in Japanese patients with biopsy-proven NAFLD. METHODS: In this retrospective cohort study, we analyzed hepatocarcinogenesis in 238 patients. PNPLA3 rs738409 genotype was determined by allelic discrimination in 130 patients...
November 10, 2016: Hepatology Research: the Official Journal of the Japan Society of Hepatology
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
#7
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/27822768/pediatric-nonalcoholic-fatty-liver-disease-the-rise-of-a-lethal-disease-among-mexican-american-hispanic-children
#8
REVIEW
Monica M Betancourt-Garcia, Armando Arguelles, Jorge Montes, Ambrosio Hernandez, Manish Singh, R Armour Forse
Hispanic children of Mexican origin have a high incidence of NAFLD. Susceptibility has been linked to a combination of factors including an increasing epidemic of obesity in children and adolescents, an allele substitution in the PNPLA3 gene that reduces hepatic lipid catabolism, and an altered microbiome that may increase hepatic endotoxins. The combination of NAFLD and portal vein toxins secondary to an indigenous gut microbiome appear to lead to the early occurrence of NASH, which progresses to cirrhosis and early hepatocellular carcinoma...
November 7, 2016: Obesity Surgery
https://www.readbyqxmd.com/read/27777887/pnpla3-as-a-genetic-determinant-of-risk-for-and-severity-of-non-alcoholic-fatty-liver-disease-spectrum
#9
Habeeb Salameh, Muhannad Al Hanayneh, Maen Masadeh, Mohammed Naseemuddin, Tasnia Matin, Angelika Erwin, Ashwani K Singal
Background and Aims:Patatin-like phospholipase domain protein 3 (PNPLA3) polymorphisms (rs738409 C>G) are associated with non-alcoholic fatty liver disease (NAFLD). We performed a systematic review and meta-analysis to examine the association of PNPLA3 polymorphisms with the spectrum and severity of this disease. Methods: Studies evaluating the association between the PNPLA3 polymorphism spectrum (fatty liver, steatohepatitis, cirrhosis, and hepatocellular carcinoma) and NAFLD were included. Pooled data are reported as odds ratios (ORs) with 95% confidence intervals...
September 28, 2016: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/27752939/association-between-pnpla3-rs738409-lyplal1-rs12137855-ppp1r3b-rs4240624-gckr-rs780094-and-elevated-transaminase-levels-in-overweight-obese-mexican-adults
#10
Yvonne N Flores, Rafael Velázquez-Cruz, Paula Ramírez, Manuel Bañuelos, Zuo-Feng Zhang, Hal F Yee, Shen-Chih Chang, Samuel Canizales-Quinteros, Manuel Quiterio, Guillermo Cabrera-Alvarez, Nelly Patiño, Jorge Salmerón
There is scarce information about the link between specific single-nucleotide polymorphisms (SNPs) and risk of liver disease among Latinos, despite the disproportionate burden of disease among this population. Our aim was to investigate nine SNPs in or near the following genes: PNPLA3, LYPLAL1, PPP1R3B, GCKR, NCAN, IRS1, PPARG, and ADIPOR2 and examine their association with persistently elevated alanine aminotransferase (ALT) or aspartate aminotransferase (AST) levels in Mexican adults. Data and samples were collected from 741 participants in the Mexican Health Worker Cohort Study, in Cuernavaca, Mexico...
December 2016: Molecular Biology Reports
https://www.readbyqxmd.com/read/27744419/transcriptional-regulation-of-pnpla3-and-its-impact-on-susceptibility-to-nonalcoholic-fatty-liver-disease-nafld-in-humans
#11
Wanqing Liu, Quentin M Anstee, Xiaoliang Wang, Samer Gawrieh, Eric R Gamazon, Shaminie Athinarayanan, Yang-Lin Liu, Rebecca Darlay, Heather J Cordell, Ann K Daly, Chris P Day, Naga Chalasani
The increased expression of PNPLA3(148M) leads to hepatosteatosis in mice. This study aims to investigate the genetic control of hepatic PNPLA3 transcription and to explore its impact on NAFLD risk in humans. Through a locus-wide expression quantitative trait loci (eQTL) mapping in two human liver sample sets, a PNPLA3 intronic SNP, rs139051 A>G was identified as a significant eQTL (p = 6.6×10(-8)) influencing PNPLA3 transcription, with the A allele significantly associated with increased PNPLA3 mRNA. An electrophoresis mobility shift assay further demonstrated that the A allele has enhanced affinity to nuclear proteins than the G allele...
October 13, 2016: Aging
https://www.readbyqxmd.com/read/27742777/pnpla3-overexpression-results-in-reduction-of-proteins-predisposing-to-fibrosis
#12
Piero Pingitore, Paola Dongiovanni, Benedetta Maria Motta, Marica Meroni, Saverio Massimo Lepore, Rosellina Margherita Mancina, Serena Pelusi, Cristina Russo, Andrea Caddeo, Giorgio Rossi, Tiziana Montalcini, Arturo Pujia, Olov Wiklund, Luca Valenti, Stefano Romeo
Liver fibrosis is a pathological scarring response to chronic hepatocellular injury and hepatic stellate cells (HSCs) are key players in this process. PNPLA3 I148M is a common variant robustly associated with liver fibrosis but the mechanisms underlying this association are unknown.We aimed to examine a) the effect of fibrogenic and proliferative stimuli on PNPLA3 levels in HSCs and b) the role of wild type and mutant PNPLA3 overexpression on markers of HSC activation and fibrosis.Here we show that PNPLA3 is upregulated by the fibrogenic cytokine transforming growth factor-beta (TGF-β), but not by platelet-derived growth factor (PDGF), and is involved in the TGF-β-induced reduction in lipid droplets in primary human HSCs...
October 13, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27729736/hepatocellular-carcinoma-in-patients-with-non-alcoholic-fatty-liver-disease
#13
Carrie R Wong, Mindie H Nguyen, Joseph K Lim
Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in the United States and represents an increasingly important etiology of hepatocellular carcinoma (HCC) with annual cumulative incidence rates ranging from 2% to 12% in cohorts of NAFLD cirrhosis. While the risk of progression of NAFLD to HCC remains higher among patients with fibrosis or cirrhosis, an increasing amount of literature describes NAFLD-HCC as a disease that can occur in the absence of cirrhosis. Efforts to characterize the pathogenesis of NAFLD-HCC have suggested mechanisms that strongly associate with states of hyperinsulinemia and chronic inflammation, cellular mechanisms including adaptive immune responses and hepatic progenitor cell populations, and genetic polymorphisms including mutations of PNPLA3...
October 7, 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
#14
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/27615511/association-of-the-i148m-pnpla3-rs738409-polymorphism-with-premature-coronary-artery-disease-fatty-liver-and-insulin-resistance-in-type-2-diabetic-patients-and-healthy-controls-the-gea-study
#15
Rosalinda Posadas-Sánchez, Ángel René López-Uribe, Carlos Posadas-Romero, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, Wendy Angélica Ocampo-Arcos, José Manuel Fragoso, Guillermo Cardoso-Saldaña, Gilberto Vargas-Alarcón
The aim of this study was to evaluate the potential use of the I148M/PNPLA3 (rs738409) gene polymorphism as a susceptibility marker for premature coronary artery disease (pCAD) and/or cardiovascular risk factors in Mexican type 2 diabetes mellitus patients (T2DM). The polymorphism was genotyped by 5' exonuclease TaqMan assays in a group of 2572 subjects (1103 with pCAD and 1469 healthy controls) belonging to the Genetics of Atherosclerotic Disease (GEA) Mexican Study. Anthropometric and biochemical measurements were performed in all individuals...
September 3, 2016: Immunobiology
https://www.readbyqxmd.com/read/27596100/the-role-of-mitochondrial-genomics-in-patients-with-non-alcoholic-steatohepatitis-nash
#16
Rohini Mehta, Kianoush Jeiran, Aaron B Koenig, Munkzhul Otgonsuren, Zachary Goodman, Ancha Baranova, Zobair Younossi
BACKGROUND: Visceral obesity and metabolic syndrome are commonly associated with non-alcoholic fatty liver disease (NAFLD). The progression of steatosis to NASH depends on a number of metabolic and patient-related factors. The mechanisms of genetic predisposition towards the development of NASH and related fibrosis remain unclear. In this study, our aim was to utilize mitotyping and identify mitochondrial haplotypes that may be associated with NAFLD. METHODS: We examined mitochondrial haplotypes along with patatin-like phospholipase domain containing 3 (PNPLA3) rs738409 genotype to determine their association with NAFLD phenotypes...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27581063/nonobese-fatty-liver-disease
#17
Donghee Kim, W Ray Kim
Nonalcoholic fatty liver disease (NAFLD) refers to a group of conditions characterized by hepatic steatosis in the absence of significant alcohol consumption. NAFLD is seen commonly in patients with metabolic abnormalities associated with obesity, such as type II diabetes, dyslipidemia, and metabolic syndrome. Evidently, however, not all obese subjects develop NAFLD and, more importantly, NAFLD can be found in nonobese individuals. Although NAFLD occurring in nonobese subjects has been reported in children and adults of all ethnicities, it appears to be recognized more frequently in Asians, even when strict ethnicity-specific body mass index criteria are used to define obesity...
August 28, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27576208/pnpla3-p-i148m-variant-is-associated-with-greater-reduction-of-liver-fat-content-after-bariatric-surgery
#18
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
#19
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/27551312/erratum-to-the-pnpla3-ile148met-interacts-with-overweight-and-dietary-intakes-on-fasting-triglyceride-levels
#20
Ivana A Stojkovic, Ulrika Ericson, Gull Rukh, Martin Ridderstråle, Stefano Romeo, Marju Orho-Melander
[This corrects the article DOI: 10.1007/s12263-014-0388-4.].
2016: Genes & Nutrition
keyword
keyword
102013
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"