keyword
MENU ▼
Read by QxMD icon Read
search

Pnpla3

keyword
https://www.readbyqxmd.com/read/28182609/genetic-polymorphisms-associated-with-liver-disease-progression-in-hiv-hcv-coinfected-patients
#1
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
#2
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
#3
EDITORIAL
Amedeo Lonardo, Stefano Ballestri, Giovanni Targher
No abstract text is available yet for this article.
January 18, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28109005/the-mboat7-variant-rs641738-increases-inflammation-and-fibrosis-in-chronic-hepatitis-b
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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)...
December 21, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28007909/mendelian-randomization-estimates-of-alanine-aminotransferase-with-cardiovascular-disease-guangzhou-biobank-cohort-study
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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...
February 2017: 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
#18
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-non-alcoholic-fatty-liver-disease-association-between-pnpla3-genotype-and-hepatocarcinogenesis-fibrosis-progression
#19
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
AIM: Some patients with non-alcoholic fatty liver disease (NAFLD) develop hepatocellular carcinoma (HCC). Patatin-like phospholipase domain containing 3 (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...
November 10, 2016: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/27836992/combined-effects-of-the-pnpla3-rs738409-tm6sf2-rs58542926-and-mboat7-rs641738-variants-on-nafld-severity-a-multicenter-biopsy-based-study
#20
Marcin Krawczyk, Monika Rau, Jörn M Schattenberg, Heike Bantel, Anita Pathil, Münevver Demir, Johannes Kluwe, Tobias Boettler, Frank Lammert, Andreas Geier
The PNPLA3 p.I148M, TM6SF2 p.E167K, and MBOAT7 rs641738 variants represent genetic risk factors for nonalcoholic fatty liver disease (NAFLD). Here we investigate if these polymorphisms modulate both steatosis and fibrosis in patients with NAFLD. We recruited 515 patients with NAFLD (age 16-88 years, 280 female patients). Liver biopsies were performed in 320 patients. PCR-based assays were used to genotype the PNPLA3, TM6SF2, and MBOAT7 variants. Carriers of the PNPLA3 and TM6SF2 risk alleles showed increased serum aspartate aminotransferase and alanine transaminase activities (P < 0...
January 2017: Journal of Lipid Research
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"