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Pnpla3

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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
#1
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
#2
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
#3
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)...
March 13, 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
#4
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
#5
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-nonalcoholic-fatty-liver-disease
#6
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 (NOD)-like receptor family pyrin domain-containing 3 (NLRP3) inflammasomes in the development of nonalcoholic fatty liver disease (NAFLD). METHODS: Levels of mRNAs encoding NLRP3, apoptosis-associated speck-like protein containing a caspase recruitment domain (CARD) (ASC), procaspase-1, interleukin (IL)-1β, and IL-18 were quantified by RT-PCR 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
#7
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
#8
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 1,188 white British/Irish alcohol dependent controls with no liver injury recruited via University College London...
February 1, 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
#9
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-mboat7-variant-rs641738-increases-inflammation-and-fibrosis-in-chronic-hepatitis-b
#10
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 inter-individual genetic variation, viral and environmental factors interact to determine the 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...
January 20, 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
#11
Yiwei Liu, Christian A Fernandez, Colton Smith, Wenjian Yang, Cheng Cheng, John C Panetta, Nancy Kornegay, Chengcheng Liu, Laura B Ramsey, Seth E Karol, Laura J Janke, Eric C Larsen, Naomi Winick, William L Carroll, Mignon L Loh, Elizabeth A Raetz, Stephen P Hunger, Meenakshi Devidas, Jun J Yang, Charles G Mullighan, Jinghui Zhang, William E Evans, Sima Jeha, Ching-Hon Pui, Mary 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 (GWAS) 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
#12
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
#13
Francesca Virginia Bruschi, Thierry Claudel, Matteo Tardelli, Alessandra Caligiuri, Thomas M Stulnig, Fabio Marra, Michael Trauner
The genetic polymorphism I148M of 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 on hepatic fibrogenesis. We show that PNPLA3 gene and protein expression increase during the early phases of activation and remain elevated in fully activated HSCs (p<0...
January 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28050240/pnpla3-polymorphism-increases-risk-for-and-severity-of-chronic-hepatitis-c-liver-disease
#14
Habeeb Salameh, Maen Masadeh, Muhannad Al Hanayneh, Vincent Petros, Matthew Maslonka, Arjun Nanda, Ashwani K Singal
AIM: To examine the association of PNPLA3 polymorphisms in chronic hepatitis C patients and development of liver disease spectrum. METHODS: Literature was searched systematically from PubMed/MEDLINE, EMBASE, and Cochrane search engines for full-length articles written in English that examined PNPLA3 polymorphism in chronic hepatitis C (CHC) patients. Studies evaluating the association of PNPLA3 polymorphism spectrum (fatty liver, steatohepatitis, cirrhosis, and hepatocellular carcinoma) of CHC were included...
December 18, 2016: World Journal of Hepatology
https://www.readbyqxmd.com/read/28050235/primary-liver-injury-and-delayed-resolution-of-liver-stiffness-after-alcohol-detoxification-in-heavy-drinkers-with-the-pnpla3-variant-i148m
#15
Vanessa Rausch, Teresa Peccerella, Carolin Lackner, Eray Yagmur, Helmut-Karl Seitz, Thomas Longerich, Sebastian Mueller
AIM: To investigate the influence of PNPLA3 genotype in heavy drinkers on serum markers and liver stiffness (LS) during alcohol withdrawal and its association with histology. METHODS: Caucasian heavy drinkers (n = 521) with a mean alcohol consumption of 192.1 g/d (median alcohol consumption: 169.0 g/d; 95%CI: 179.0-203.3) were enrolled at the Salem Medical Center, University of Heidelberg. LS was measured by transient elastography (Fibroscan, Echosens SA, Paris, France)...
December 18, 2016: World Journal of Hepatology
https://www.readbyqxmd.com/read/28027788/non-alcoholic-fatty-liver-disease-and-subclinical-atherosclerosis-a-comparison-of-metabolically-versus-genetically-driven-excess-fat-hepatic-storage
#16
Alessia Di Costanzo, Laura D'Erasmo, Licia Polimeni, Francesco Baratta, Paola Coletta, Michele Di Martino, Lorenzo Loffredo, Ludovica Perri, Fabrizio Ceci, Anna Montali, Gabriella Girelli, Bruna De Masi, Antonio Angeloni, Carlo Catalano, Marianna Maranghi, Maria Del Ben, Francesco Angelico, Marcello Arca
BACKGROUND AND AIMS: Non-alcoholic fatty liver disease (NAFLD) is frequently associated with atherosclerosis. However, it is unclear whether this association is related to excess fat liver storage per se or to metabolic abnormalities that typically accompany NAFLD. To investigate this, we compared individuals with hepatic steatosis driven by metabolic disturbances to those with hepatic steatosis associated with the rs738409 GG genotype in the patatin-like phospholipase domain-containing 3 gene (PNPLA3)...
February 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28007909/mendelian-randomization-estimates-of-alanine-aminotransferase-with-cardiovascular-disease-guangzhou-biobank-cohort-study
#17
Lin Xu, Chao Qiang Jiang, Tai Hing Lam, Wei Sen Zhang, Feng Zhu, Ya Li Jin, G Neil Thomas, Kar Keung Cheng, C Mary Schooling
Observational studies of the association of alanine aminotransferase (ALT) levels with ischaemic heart disease (IHD) and cardiovascular disease (CVD) risk factors are inconsistent, probably because of confounding and reverse causality. Mendelian randomization (MR) provides less confounded results. We used MR analysis to assess the associations of ALT (U/L) with IHD, diabetes and other CVD risk factors. We used instrumental variable analysis based on two single nucleotide polymorphism (SNPs) HSD17B13/MAPK10 (rs6834314) and PNPLA3/SAMM50 (rs738409) to assess the associations of ALT (U/L) with IHD, diabetes and other CVD risk factors in the Guangzhou Biobank Cohort Study (GBCS)...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27973562/the-pnpla3-genetic-variant-rs738409-influences-the-progression-to-cirrhosis-in-hiv-hepatitis-c-virus-coinfected-patients
#18
Rocío Núñez-Torres, Juan Macías, María Mancebo, Mario Frías, Giovanni Dolci, Francisco Téllez, Dolores Merino, Nicolás Merchante, Jesús Gómez-Mateos, Giovanni Guaraldi, Antonio Rivero-Juárez, Juan A Pineda, Luis M Real
Contradictory data about the impact of the rs738409 steatosis-related polymorphism within PNPLA3 gene on liver fibrosis progression in HIV/hepatitis C virus (HIV/HCV)-coinfected patients have been reported. Our objective was to test whether this, and other polymorphisms previously related to fatty liver disease in HIV infection linked to SAMM50 or LPPR4 genes, influence liver fibrosis progression in HIV/HCV-coinfected individuals. Three hundred and thirty two HIV/HCV-coinfected patients who consecutively attended four Spanish university hospitals from November 2011 to July 2013 were included...
2016: PloS One
https://www.readbyqxmd.com/read/27929200/obesity-insulin-resistance-rather-than-liver-fat-increases-coagulation-factor-activities-and-expression-in-humans
#19
Susanna Lallukka, Panu K Luukkonen, You Zhou, Elina M Petäjä, Marja Leivonen, Anne Juuti, Antti Hakkarainen, Marju Orho-Melander, Nina Lundbom, Vesa M Olkkonen, Riitta Lassila, Hannele Yki-Järvinen
Increased liver fat may be caused by insulin resistance and adipose tissue inflammation or by the common I148M variant in PNPLA3 at rs738409, which lacks both of these features. We hypothesised that obesity/insulin resistance rather than liver fat increases circulating coagulation factor activities. We measured plasma prothrombin time (PT, Owren method), activated partial thromboplastin time (APTT), activities of several coagulation factors, VWF:RCo and fibrinogen, and D-dimer concentration in 92 subjects divided into groups based on insulin sensitivity [insulin-resistant ('IR') versus insulin-sensitive ('IS')] and PNPLA3 genotype (PNPLA3(148MM/MI) vs PNPLA3(148II))...
December 8, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27908400/low-hepatic-copper-content-and-pnpla3-polymorphism-in-non-alcoholic-fatty-liver-disease-in-patients-without-metabolic-syndrome
#20
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
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