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https://www.readbyqxmd.com/read/29674183/pnpla3-rs738409-polymorphism-is-associated-with-liver-fibrosis-progression-in-patients-with-chronic-hepatitis-c-a-repeated-measures-study
#1
María Ángeles Jiménez-Sousa, Ana Zaida Gómez-Moreno, Daniel Pineda-Tenor, Juan José Sánchez-Ruano, Amanda Fernández-Rodríguez, Tomas Artaza-Varasa, Alicia Gómez-Sanz, María Martín-Vicente, Sonia Vázquez-Morón, Salvador Resino
BACKGROUND: Host genetic background has been associated with liver fibrosis progression. OBJECTIVE: To analyze the association between the patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 polymorphism and liver fibrosis progression in hepatitis C virus (HCV)-infected patients. STUDY DESIGN: In this retrospective cohort study, 187 patients with chronic HCV infection were included, who had at least two liver stiffness measurements (LSM) by transient elastography during the follow-up...
April 12, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29671945/the-rs4686434-variant-in-the-fetub-locus-is-associated-with-intrahepatic-triglyceride-content-in-obese-chinese-adults
#2
Zhibin Li, Mingzhu Lin, Changqin Liu, Zheng Chen, Dongmei Wang, Xiulin Shi, Shuyu Yang, Xuejun Li
BACKGROUND: We aimed to explore associations of genetic variants in FETUB locus with intrahepatic triglyceride (IHTG) content. METHODS: We genotyped 4 tagging single-nucleotide polymorphisms (SNPs) of FETUB locus as well as PNPLA3 rs738409 and TM6SF2 rs58542926 in 418 obese Chinese adults who were measured on serum Fetuin-B and IHTG content. RESULTS: Subjects carrying the minor allele G for FETUB rs4686434 showed decreased serum Fetuin-B (AG/GG v...
April 19, 2018: Journal of Diabetes
https://www.readbyqxmd.com/read/29665034/metabolic-features-of-nonalcoholic-fatty-liver-nafl-in-obese-adolescents-findings-from-a-multi-ethnic-cohort
#3
Domenico Tricò, Sonia Caprio, Giuseppina Rosaria Umano, Bridget Pierpont, Jessica Nouws, Alfonso Galderisi, Grace Kim, Mariana M Mata, Nicola Santoro
AIMS: We conducted a prospective study in a large, multiethnic cohort of obese adolescents to characterize clinical and genetic features associated with pediatric Non-Alcoholic Fatty Liver (NAFL), the most common cause of chronic liver disease in youth. METHODS: A total of 503 obese adolescents were enrolled, including 191 (38.0%) Caucasians, 134 (26.6%) African Americans, and 178 (35.4%) Hispanics. Participants underwent abdominal magnetic resonance imaging (MRI) to quantify hepatic fat content, an oral glucose tolerance test to assess glucose tolerance and insulin sensitivity, and the genotyping of three SNPs associated with fatty liver (PNPLA3 rs738409, GCKR rs1260326, and TM6SF2 rs58542926)...
April 17, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29648650/nafld-risk-alleles-in-pnpla3-tm6sf2-gckr-and-lyplal1-show-divergent-metabolic-effects
#4
Eeva Sliz, Sylvain Sebert, Peter Würtz, Antti J Kangas, Pasi Soininen, Terho Lehtimäki, Mika Kähönen, Jorma Viikari, Minna Männikkö, Mika Ala-Korpela, Olli T Raitakari, Johannes Kettunen
Fatty liver has been associated with unfavourable metabolic changes in circulation. To provide insights in fatty liver related metabolic deviations, we compared metabolic association profile of fatty liver versus metabolic association profiles of genotypes increasing the risk of non-alcoholic fatty liver disease (NAFLD). The cross-sectional associations of ultrasound-ascertained fatty liver with 123 metabolic measures were determined in 1,810 (Nfatty liver=338) individuals aged 34-49 years from The Cardiovascular Risk in Young Finns Study...
April 10, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29616948/dietary-patterns-in-nafld-and-their-interaction-with-polymorphisms-in-pnpla3-and-tm6sf2-genes
#5
Dimitra Borsa, Ioanna-Panagiota Kalafati, John Vlachogiannakos, Konstantinos Revenas, Alexander Kokkinos, Spyridon Ladas, George Dedoussis
No abstract text is available yet for this article.
April 2018: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/29609501/the-relationship-between-obesity-and-the-severity-of-non-alcoholic-fatty-liver-disease-systematic-review-and-meta-analysis
#6
Feng-Bin Lu, En-De Hu, Lan-Man Xu, Lu Chen, Jin-Lu Wu, Hui Li, Da-Zhi Chen, Yong-Ping Chen
A number of researches have explored the association between obesity and nonalcoholic fatty liver disease (NAFLD) liver function, histopathology, complications, genetic factors and prognosis, but the results were conflicting and inconclusive. Areas covered: In this meta-analysis, the liver function, histopathology, metabolic complications, patatin-like phospholipase domain-containing protein 3 (PNPLA3) genetic polymorphism and prognosis were compared between non-obese and obese NAFLD. Pubmed, EMBASE, Cochrane databases were searched to identify eligible studies...
April 2, 2018: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29601441/the-membrane-bound-o-acyltransferase7-rs641738-variant-in-pediatric-nonalcoholic-fatty-liver-disease
#7
Anna Di Sessa, Giuseppina Rosaria Umano, Grazia Cirillo, Angela Del Prete, Roberta Iacomino, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice
BACKGROUND: The rs641738 polymorphism in the membrane-bound O-acyltransferase domain containing protein 7 (MBOAT7) gene has been associated with increased risk of nonalcoholic fatty liver disease (NAFLD). OBJECTIVES: To investigate the association between the MBOAT7 rs641738 polymorphism and both hepatic steatosis and biochemical markers of liver damage and to evaluate the potential additive effect of this variant and the I148M patatin-like phospholipase domain-containing 3 (PNPLA3) and the rs58542926 transmembrane 6 superfamily member 2 (TM6SF2) polymorphisms...
March 29, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29595690/a-novel-index-including-snps-for-the-screening-of-nonalcoholic-fatty-liver-disease-among-elder-chinese-a-population-based-study
#8
Huanhuan Yang, Guochong Chen, Chunli Song, Deming Li, Qinghua Ma, Guangliang Chen, Xinli Li
Presently noninvasive methods were employed to the diagnosis of nonalcoholic fatty liver disease (NAFLD), including fatty liver index (FLI), hepatic steatosis index (HSI), product of fasting triglyceride and glucose levels (TyG), and single nucleotide polymorphism (SNP), whereas the accuracy of those indexes need to be improved. Our study aimed to investigate the feasibility of a new index comprehensive index (CI), consisting of 6 serum biomarkers and anthropometric parameters through multivariate logistic regression analysis, to the earlier detection of NAFLD, and the diagnostic value of 5 SNPs (S1: rs2854116 of apolipoprotein C3 [APOC3], S2: rs4149267 of ATP-binding cassette transporter [ABCA1], S3: rs13702 of lipoprotein lipase [LPL], S4: rs738409 of protein 3 [patatin-like phospholipase domain containing protein 3 (PNPLA3)], S5: rs780094 of glucokinase regulatory protein gene [GCKR]) for NAFLD were also explored...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29593668/simulation-study-of-cdna-dataset-to-investigate-possible-association-of-differentially-expressed-genes-of-human-thp1-monocytic-cells-in-cancer-progression-affected-by-bacterial-shiga-toxins
#9
Syed A Muhammad, Jinlei Guo, Thanh M Nguyen, Xiaogang Wu, Baogang Bai, X Frank Yang, Jake Y Chen
Shiga toxin (Stxs) is a family of structurally and functionally related bacterial cytotoxins produced by Shigella dysenteriae serotype 1 and shigatoxigenic group of Escherichia coli that cause shigellosis and hemorrhagic colitis, respectively. Until recently, it has been thought that Stxs only inhibits the protein synthesis and induces expression to a limited number of genes in host cells, but recent data showed that Stxs can trigger several signaling pathways in mammalian cells and activate cell cycle and apoptosis...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29578593/high-frequency-of-the-pnpla3-rs738409-g-single-nucleotide-polymorphism-in-hmong-individuals-as-a-potential-basis-for-a-predisposition-to-chronic-liver-disease
#10
Clifford G Tepper, Julie H T Dang, Susan L Stewart, Dao M Fang, Kimberly A Wong, Stephenie Y Liu, Ryan R Davis, Doan Y Dao, Jeffrey P Gregg, Natalie J Török, Moon S Chen
BACKGROUND: An exploratory study was performed to determine the prevalence of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) rs78409 [G] allele among the Hmong as a risk factor for nonalcoholic fatty liver disease (NAFLD). NAFLD/nonalcoholic steatohepatitis is the world's most common chronic liver disease and is expected to replace viral hepatitis as the leading cause of cirrhosis and potential precursor to hepatocellular carcinoma (HCC). Of all populations in California, the Hmong experience the highest risk of death from HCC and the highest prevalence of metabolic syndrome risk factors among Asians that predispose them to NAFLD...
April 1, 2018: Cancer
https://www.readbyqxmd.com/read/29577560/prevalence-and-severity-of-nafld-by-transient-elastography-genetic-and-metabolic-risk-factors-in-a-general-population
#11
Salvatore Petta, Vito Di Marco, Rosaria Maria Pipitone, Stefania Grimaudo, Carola Buscemi, Antonio Craxì, Silvio Buscemi
BACKGROUND/AIMS: The worldwide spread of obesity is leading to a dramatic increase in the prevalence of nonalcoholic fatty liver disease (NAFLD) and its complications. We aimed to evaluate both prevalence and factors associated with NAFLD in a general population in a Mediterranean area. METHODS: We considered 890 consecutive individuals included in the community-based ABCD (Alimentazione, Benessere Cardiovascolare e Diabete) study (ISRCTN15840340). Controlled attenuation parameter (CAP) and liver stiffness measurement (LSM) were measured with FibroScan...
March 25, 2018: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/29574608/fish-intake-interacts-with-tm6sf2-gene-variant-to-affect-nafld-risk-results-of-a-case-control-study
#12
I P Kalafati, M Dimitriou, D Borsa, J Vlachogiannakos, K Revenas, A Kokkinos, S D Ladas, G V Dedoussis
PURPOSE: Non-alcoholic fatty liver disease (NAFLD) is a complex disease, resulting from a variety of genetic and environmental factors. The aim of this case-control study was to evaluate the effect of selected genetic polymorphisms, nutrition aspects and their interaction on the risk of NAFLD. METHODS: The sample consisted of 134 patients with NAFLD and 217 controls. Disease was diagnosed by liver ultrasound and volunteers were clinically and nutritionally assessed...
March 24, 2018: European Journal of Nutrition
https://www.readbyqxmd.com/read/29562725/genetic-and-epigenetic-regulation-in-nonalcoholic-fatty-liver-disease-nafld
#13
REVIEW
José A Del Campo, Rocío Gallego-Durán, Paloma Gallego, Lourdes Grande
Genetics and epigenetics play a key role in the development of several diseases, including nonalcoholic fatty liver disease (NAFLD). Family studies demonstrate that first degree relatives of patients with NAFLD are at a much higher risk of the disease than the general population. The development of the Genome Wide Association Study (GWAS) technology has allowed the identification of numerous genetic polymorphisms involved in the evolution of diseases (e.g., PNPLA3 , MBOAT7 ). On the other hand, epigenetic changes interact with inherited risk factors to determine an individual's susceptibility to NAFLD...
March 19, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29562163/a-protein-truncating-hsd17b13-variant-and-protection-from-chronic-liver-disease
#14
Noura S Abul-Husn, Xiping Cheng, Alexander H Li, Yurong Xin, Claudia Schurmann, Panayiotis Stevis, Yashu Liu, Julia Kozlitina, Stefan Stender, G Craig Wood, Ann N Stepanchick, Matthew D Still, Shane McCarthy, Colm O'Dushlaine, Jonathan S Packer, Suganthi Balasubramanian, Nehal Gosalia, David Esopi, Sun Y Kim, Semanti Mukherjee, Alexander E Lopez, Erin D Fuller, John Penn, Xin Chu, Jonathan Z Luo, Uyenlinh L Mirshahi, David J Carey, Christopher D Still, Michael D Feldman, Aeron Small, Scott M Damrauer, Daniel J Rader, Brian Zambrowicz, William Olson, Andrew J Murphy, Ingrid B Borecki, Alan R Shuldiner, Jeffrey G Reid, John D Overton, George D Yancopoulos, Helen H Hobbs, Jonathan C Cohen, Omri Gottesman, Tanya M Teslovich, Aris Baras, Tooraj Mirshahi, Jesper Gromada, Frederick E Dewey
BACKGROUND: Elucidation of the genetic factors underlying chronic liver disease may reveal new therapeutic targets. METHODS: We used exome sequence data and electronic health records from 46,544 participants in the DiscovEHR human genetics study to identify genetic variants associated with serum levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST). Variants that were replicated in three additional cohorts (12,527 persons) were evaluated for association with clinical diagnoses of chronic liver disease in DiscovEHR study participants and two independent cohorts (total of 37,173 persons) and with histopathological severity of liver disease in 2391 human liver samples...
March 22, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29555681/phospholipase-domain-containing-protein-3-promotes-transfers-of-essential-fatty-acids-from-triglycerides-to-phospholipids-in-hepatic-lipid-droplets
#15
Matthew A Mitsche, Helen H Hobbs, Jonathan C Cohen
Fatty liver disease (FLD) is a burgeoning health problem. A missense variant (I148M) in patatin-like phospholipase domain containing protein 3 (PNPLA3) confers susceptibility to FLD, although the mechanism is not known. To glean first insights into the physiological function of PNPLA3, we performed detailed lipidomic profiling of liver lysates and lipid droplets (LDs) from wildtype (WT), Pnpla3-/- (KO), and knock-in (ki) mice expressing either the 148M variant (IM-ki mice) or a variant (S47A) that renders the protein catalytically inactive (SA-ki mice)...
March 19, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29535416/genetic-variants-in-pnpla3-and-tm6sf2-predispose-to-the-development-of-hepatocellular-carcinoma-in-individuals-with-alcohol-related-cirrhosis
#16
Felix Stickel, Stephan Buch, Hans Dieter Nischalke, Karl Heinz Weiss, Daniel Gotthardt, Janett Fischer, Jonas Rosendahl, Pierre Deltenre, Astrid Marot, Mona Elamly, Markus Casper, Frank Lammert, Andrew McQuillin, Steffen Zopf, Ulrich Spengler, Silke Marhenke, Martha M Kirstein, Arndt Vogel, Florian Eyer, Johann von Felden, Henning Wege, Thorsten Buch, Clemens Schafmayer, Felix Braun, Thomas Berg, Marsha Y Morgan, Jochen Hampe
OBJECTIVES: Variants in patatin-like phospholipase domain-containing 3 (PNPLA3; rs738409), transmembrane 6 superfamily member 2 (TM6SF2; rs58542926), and membrane bound O-acyltransferase domain containing 7 (MBOAT7; rs641738) are risk factors for the development of alcohol-related cirrhosis. Within this population, PNPLA3 rs738409 is also an established risk factor for the development of hepatocellular carcinoma (HCC). The aim of this study was to explore possible risk associations of TM6SF2 rs58542926 and MBOAT7 rs641738 with HCC...
March 13, 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29493856/analysis-of-genotyping-for-predicting-liver-injury-marker-procollagen-iii-in-persons-at-risk-of-non-alcoholic-fatty-liver-disease
#17
Jane I Grove, Prarthana Thiagarajan, Stuart Astbury, Rebecca Harris, Toby Delahooke, I Neil Guha, Guruprasad P Aithal
BACKGROUND & AIMS: Chronic liver disease presents a major global public health challenge. Stratification of asymptomatic, at-risk patients in primary care using non-invasive methods has the potential to address this by identifying those likely to progress. We therefore evaluated variant alleles at loci associated with non-alcoholic fatty liver disease (NAFLD) as genetic determinants of substantial liver injury in patients with disease risk factors. METHODS: Levels of serum procollagen III (PIIINP), an established fibrosis and steatohepatitis marker, were determined in 467 people who had type 2 diabetes and/or BMI>27...
March 1, 2018: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/29492830/the-genetic-backgrounds-in-nonalcoholic-fatty-liver-disease
#18
REVIEW
Yuya Seko, Kanji Yamaguchi, Yoshito Itoh
Nonalcoholic fatty liver disease (NAFLD) is the most prevalent chronic liver disease worldwide. Nonalcoholic steatohepatitis (NASH), a severe form of NAFLD, can lead to hepatocellular carcinoma (HCC) and hepatic failure. The development and progression of NAFLD are determined by environmental and genetic factors. The effect of genetic factors has been demonstrated by familial studies, twin studies and several cross-sectional studies. In the past 10 years, genome-wide association studies have revealed several single nucleotide polymorphisms (SNPs) associated with the pathology of NAFLD...
February 28, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29487372/evaluation-of-polygenic-determinants-of-non-alcoholic-fatty-liver-disease-nafld-by-a-candidate-genes-resequencing-strategy
#19
Alessia Di Costanzo, Francesca Belardinilli, Diego Bailetti, Marialuisa Sponziello, Laura D'Erasmo, Licia Polimeni, Francesco Baratta, Daniele Pastori, Fabrizio Ceci, Anna Montali, Gabriella Girelli, Bruna De Masi, Antonio Angeloni, Giuseppe Giannini, Maria Del Ben, Francesco Angelico, Marcello Arca
NAFLD is a polygenic condition but the individual and cumulative contribution of identified genes remains to be established. To get additional insight into the genetic architecture of NAFLD, GWAS-identified GCKR, PPP1R3B, NCAN, LYPLAL1 and TM6SF2 genes were resequenced by next generation sequencing in a cohort of 218 NAFLD subjects and 227 controls, where PNPLA3 rs738409 and MBOAT7 rs641738 genotypes were also obtained. A total of 168 sequence variants were detected and 47 were annotated as functional. When all functional variants within each gene were considered, only those in TM6SF2 accumulate in NAFLD subjects compared to controls (P = 0...
February 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29485130/the-rs626283-variant-in-the-mboat7-gene-is-associated-with-insulin-resistance-and-fatty-liver-in-caucasian-obese-youth
#20
Giuseppina R Umano, Sonia Caprio, Anna Di Sessa, Naga Chalasani, Daniel J Dykas, Bridget Pierpont, Allen E Bale, Nicola Santoro
OBJECTIVES: Non alcoholic fatty liver disease (NAFLD) is a leading cause of liver damage in childhood, its occurrence is influenced by genetic and environmental factors. Recently, the rs626283 polymorphism in the MBOAT7 gene has been found to be associated with alcoholic liver disease and NAFLD in adults. METHODS: In a multiethnic cohort of obese children and adolescents we genotyped the rs626283 polymorphism in the MBOAT7 gene, evaluated insulin sensitivity by an oral glucose tolerance test, and measured the intra-hepatic fat content (HFF%) by magnetic resonance imaging...
February 27, 2018: American Journal of Gastroenterology
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