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TM6SF2

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https://www.readbyqxmd.com/read/29761171/coding-variants-in-pnpla3-and-tm6sf2-are-risk-factors-for-hepatic-steatosis-and-elevated-serum-alanine-aminotransferases-caused-by-a-glucagon-receptor-antagonist
#1
Cristina B Guzman, Suman Duvvuru, Anthony Akkari, Pallav Bhatnagar, Chakib Battioui, Wendra Foster, Xiaotian Michelle Zhang, Sudha S Shankar, Mark A Deeg, Naga Chalasani, Thomas A Hardy, Christof M Kazda, Sreekumar G Pillai
LY2409021 is a glucagon receptor antagonist that was associated with hepatic steatosis and elevated aminotransferases in phase 2 diabetes studies. We investigated the relationship between selected genetic variants and hepatic steatosis and elevated alanine aminotransferases (ALTs) associated with LY2409021. Patients participated in a 6-week placebo-controlled trial (I1R-MC-GLDI [GLDI], n = 246) and a 52-week placebo- and active comparator-controlled trial (I1R-MC-GLDJ [GLDJ], n = 158). GLDJ had endpoints at 6 months, including measures of hepatic fat fraction (HFF) by magnetic resonance imaging...
May 2018: Hepatology Communications
https://www.readbyqxmd.com/read/29732362/combining-genetic-variants-to-improve-risk-prediction-for-nafld-and-its-progression-to-cirrhosis-a-proof-of-concept-study
#2
Umberto Vespasiani-Gentilucci, Chiara Dell'Unto, Antonio De Vincentis, Andrea Baiocchini, Marco Delle Monache, Roberto Cecere, Adriano Maria Pellicelli, Valerio Giannelli, Simone Carotti, Giovanni Galati, Paolo Gallo, Francesco Valentini, Franca Del Nonno, Davide Rosati, Sergio Morini, Raffaele Antonelli-Incalzi, Antonio Picardi
Background & Aims: Identifying NAFLD patients at risk of progression is crucial to orient medical care and resources. We aimed to verify if the effects determined by different single nucleotide polymorphisms (SNPs) could add up to multiply the risk of NAFLD and NASH-cirrhosis. Methods: Three study populations, that is, patients diagnosed with NASH-cirrhosis or with noncirrhotic NAFLD and healthy controls, were enrolled. PNPLA3 rs738409, TM6SF2 rs58542926, KLF6 rs3750861, SOD2 rs4880, and LPIN1 rs13412852 were genotyped...
2018: Canadian Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29708925/unexplained-reciprocal-regulation-of-diabetes-and-lipoproteins
#3
Sei Higuchi, M Concepción Izquierdo, Rebecca A Haeusler
PURPOSE OF REVIEW: Type 2 diabetes is associated with a characteristic dyslipidemia that may exacerbate cardiovascular risk. The causes of, and the effects of new antihyperglycemia medications on, this dyslipidemia, are under investigation. In an unexpected reciprocal manner, lowering LDL-cholesterol with statins slightly increases the risk of diabetes. Here we review the latest findings. RECENT FINDINGS: The inverse relationship between LDL-cholesterol and diabetes has now been confirmed by multiple lines of evidence...
June 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29700094/genetics-of-alcoholic-liver-disease-and-non-alcoholic-steatohepatitis
#4
Emma Scott, Quentin M Anstee
Alcohol-related liver disease (ARLD) and non-alcoholic fatty liver disease (NAFLD) are leading causes of chronic liver disease globally. Both ARLD and NAFLD are multifactorial and refer to a spectrum of disease severity, ranging from steatosis through steatohepatitis to fibrosis and cirrhosis. Both diseases exhibit substantial inter-patient variation in long-term outcomes and are best considered complex disease traits where genetic and environmental factors interact to mediate disease severity and progression...
April 1, 2018: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/29671945/the-rs4686434-variant-in-the-fetub-locus-is-associated-with-intrahepatic-triglyceride-content-in-obese-chinese-adults
#5
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
#6
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
#7
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
#8
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/29601441/the-membrane-bound-o-acyltransferase7-rs641738-variant-in-pediatric-nonalcoholic-fatty-liver-disease
#9
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/29577560/prevalence-and-severity-of-nafld-by-transient-elastography-genetic-and-metabolic-risk-factors-in-a-general-population
#10
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
#11
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/29535416/genetic-variants-in-pnpla3-and-tm6sf2-predispose-to-the-development-of-hepatocellular-carcinoma-in-individuals-with-alcohol-related-cirrhosis
#12
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
#13
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 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
#14
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...
April 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
#15
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
#16
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...
March 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29483677/could-inherited-predisposition-drive-non-obese-fatty-liver-disease-results-from-german-tertiary-referral-centers
#17
Marcin Krawczyk, Heike Bantel, Monika Rau, Jörn M Schattenberg, Frank Grünhage, Anita Pathil, Münevver Demir, Johannes Kluwe, Tobias Boettler, Susanne N Weber, Andreas Geier, Frank Lammert
Non-alcoholic fatty liver disease (NAFLD) is frequent among obese individuals with metabolic syndrome. Variants PNPLA3 p.I148M, TM6SF2 p.E167K and MBOAT7 rs641738 are associated with higher liver fat contents. Here we analyzed 63 biopsied non-obese, non-diabetic patients with NAFLD (39 men, age: 20-72 years) recruited within the German NAFLD CSG program. The frequencies of the PNPLA3, TM6SF2 and MBOAT7 polymorphisms were compared with the remaining patients in the NAFLD CSG cohort and with a control population (n = 174)...
May 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29366243/targeted-sequencing-of-apoc3-gckr-lipa-ppp1r3b-ncan-lyplal1-and-tm6sf2-genes-in-patients-with-nonalcoholic-fatty-liver-disease-nafld
#18
Alessia Di Costanzo, Francesca Belardinilli, Diego Bailetti, Marialuisa Sponziello, Laura D'Erasmo, Licia Polimeni, Francesco Baratta, Maria Del Ben, Giuseppe Giannini, Francesco Angelico, Marcello Arca
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29314568/genetic-determinants-of-hepatic-steatosis-and-serum-cytokeratin-18-fragment-levels-in-taiwanese-children
#19
Yu-Cheng Lin, Pi-Feng Chang, Mei-Hwei Chang, Yen-Hsuan Ni
BACKGROUND/AIMS: There are substantial genetic components contributing to the susceptibility of nonalcoholic fatty liver disease (NAFLD). It has recently been reported that the rs641738 C>T variant in the membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) gene increased severity of NAFLD in adults of European descent. We aimed to test the hypothesis that MBOAT7 rs641738 variant would increase hepatic steatosis and hepatocellular injury in obese children. METHODS: A total of 831 obese children aged 7-15 years were recruited...
January 4, 2018: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/29280273/causal-relationship-of-hepatic-fat-with-liver-damage-and-insulin-resistance-in-nonalcoholic-fatty-liver
#20
P Dongiovanni, S Stender, A Pietrelli, R M Mancina, A Cespiati, S Petta, S Pelusi, P Pingitore, S Badiali, M Maggioni, V Mannisto, S Grimaudo, R M Pipitone, J Pihlajamaki, A Craxi, M Taube, L M S Carlsson, S Fargion, S Romeo, J Kozlitina, L Valenti
BACKGROUND AND AIMS: Nonalcoholic fatty liver disease is epidemiologically associated with hepatic and metabolic disorders. The aim of this study was to examine whether hepatic fat accumulation has a causal role in determining liver damage and insulin resistance. METHODS: We performed a Mendelian randomization analysis using risk alleles in PNPLA3, TM6SF2, GCKR and MBOAT7, and a polygenic risk score for hepatic fat, as instruments. We evaluated complementary cohorts of at-risk individuals and individuals from the general population: 1515 from the liver biopsy cohort (LBC), 3329 from the Swedish Obese Subjects Study (SOS) and 4570 from the population-based Dallas Heart Study (DHS)...
April 2018: Journal of Internal Medicine
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