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https://www.readbyqxmd.com/read/28718984/effect-of-pnpla3-i148m-polymorphism-on-histologically-proven-nonalcoholic-fatty-liver-disease-in-liver-transplant-recipients
#1
Hyeyoung Kim, Kwang-Woong Lee, Kyoungbun Lee, Sooin Seo, Min-Young Park, Sung Woo Ahn, Suk Kyun Hong, Kyung Chul Yoon, Hyo-Sin Kim, YoungRok Choi, Hae Won Lee, Nam-Joon Yi, Kyung-Suk Suh
AIM: PNPLA3 I148M polymorphism (rs738409 C>G) is the most important and the best known polymorphism for nonalcoholic fatty liver disease (NAFLD). However, little is known about the effect of this polymorphism on NAFLD after liver transplantation (LT). We aimed to evaluate the association between this polymorphism and post-LT NAFLD. METHODS: We designed a prospective case-control study. Among adult recipients who underwent LT between April 2014 and October 2015, those whose whole blood were preoperatively collected for genotyping in both recipients and coupled donors and those who have undergone protocol biopsy at post-LT 1 year were enrolled...
July 18, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28711549/a-case-of-hypocholesterolemia-and-steatosis-in-a-carrier-of-a-pcsk9-loss-of-function-mutation-and-polymorphisms-predisposing-to-nonalcoholic-fatty-liver-disease
#2
Mathilde Di Filippo, Benoit Vokaer, Nabil G Seidah
We report a new case of hypobetalipoproteinemia in a 44-year-old man of Peruvian origin exhibiting a heterozygous PCSK9 missense mutation (c.946 G>T, p. Gly316Cys). In vitro functional studies demonstrated that this mutation leads to a loss of function of PCSK9 on low-density lipoprotein receptor degradation. This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, p.Ile148Met (rs738409) and p.Glu167Lys (rs58542926) on PNPLA3 and TM6SF2 gene, respectively, previously shown to be associated with nonalcoholic steatosis and fibrosis evolution...
June 13, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28676024/nafld-nash-an-under-recognized-epidemic
#3
Joseph Jennings, Charles Faselis, Michael D Yao
First described in 1980, nonalcoholic fatty liver disease (NAFLD) has become more common although the exact incidence and prevalence is unknown. While the exact prevalence varies from region to region, the overall trend shows an increased number of patients with NAFLD. Risk factors for the development of NAFLD includes advanced age, male gender, obesity, and having elements of the metabolic syndrome. There is also an association between the presence of NAFLD and coronary atherosclerosis. Persons of Hispanic descent tend to have higher rates of NAFLD when compared with other populations...
June 20, 2017: Current Vascular Pharmacology
https://www.readbyqxmd.com/read/28674415/mboat7-rs641738-variant-and-hepatocellular-carcinoma-in-non-cirrhotic-individuals
#4
Benedetta Donati, Paola Dongiovanni, Stefano Romeo, Marica Meroni, Misti McCain, Luca Miele, Salvatore Petta, Silvia Maier, Chiara Rosso, Laura De Luca, Ester Vanni, Stefania Grimaudo, Renato Romagnoli, Fabio Colli, Flaminia Ferri, Rosellina Margherita Mancina, Paula Iruzubieta, Antonio Craxi, Anna Ludovica Fracanzani, Antonio Grieco, Stefano Ginanni Corradini, Alessio Aghemo, Massimo Colombo, Giorgio Soardo, Elisabetta Bugianesi, Helen Reeves, Quentin M Anstee, Silvia Fargion, Luca Valenti
Nonalcoholic fatty liver disease (NAFLD) represents an emerging cause of hepatocellular carcinoma (HCC), especially in non-cirrhotic individuals. The rs641738 C > T MBOAT7/TMC4 variant predisposes to progressive NAFLD, but the impact on hepatic carcinogenesis is unknown. In Italian NAFLD patients, the rs641738 T allele was associated with NAFLD-HCC (OR 1.65, 1.08-2.55; n = 765), particularly in those without advanced fibrosis (p < 0.001). The risk T allele was linked to 3'-UTR variation in MBOAT7 and to reduced MBOAT7 expression in patients without severe fibrosis...
July 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28660493/use-of-homa-ir-to-diagnose-non-alcoholic-fatty-liver-disease-a-population-based-and-inter-laboratory-study
#5
Elina Isokuortti, You Zhou, Markku Peltonen, Elisabetta Bugianesi, Karine Clement, Dominique Bonnefont-Rousselot, Jean-Marc Lacorte, Amalia Gastaldelli, Detlef Schuppan, Jörn M Schattenberg, Antti Hakkarainen, Nina Lundbom, Pekka Jousilahti, Satu Männistö, Sirkka Keinänen-Kiukaanniemi, Juha Saltevo, Quentin M Anstee, Hannele Yki-Järvinen
AIMS/HYPOTHESIS: Recent European guidelines for non-alcoholic fatty liver disease (NAFLD) call for reference values for HOMA-IR. In this study, we aimed to determine: (1) the upper limit of normal HOMA-IR in two population-based cohorts; (2) the HOMA-IR corresponding to NAFLD; (3) the effect of sex and PNPLA3 genotype at rs738409 on HOMA-IR; and (4) inter-laboratory variations in HOMA-IR. METHODS: We identified healthy individuals in two population-based cohorts (FINRISK 2007 [n = 5024] and the Programme for Prevention of Type 2 Diabetes in Finland [FIN-D2D; n = 2849]) to define the upper 95th percentile of HOMA-IR...
June 29, 2017: Diabetologia
https://www.readbyqxmd.com/read/28645116/the-additive-effects-of-the-tm6sf2-e167k-and-pnpla3-i148m-polymorphisms-on-lipid-metabolism
#6
Lizhen Chen, Shuixian Du, Linlin Lu, Zhonghua Lin, Wenwen Jin, Doudou Hu, Xiangjun Jiang, Yongning Xin, Shiying Xuan
There is a genetic susceptibility for nonalcoholic fatty liver disease (NAFLD). To examine the role of genetic factors in the disease, a Bayesian analysis was performed to model gene relationships in NAFLD pathogenesis. The Bayesian analysis indicated a potential gene interaction between the TM6SF2 and PNPLA3 genes. Next, to explore the underlying mechanism at the cellular level, we evaluated the additive effects between the TM6SF2 E167K and PNPLA3 I148M polymorphisms on lipid metabolism. Hepa 1-6 cells were transfected with a control vector or with overexpression vectors for TM6SF2/PNPLA3-wild type, TM6SF2-mutant type, PNPLA3-mutant type, or TM6SF2/PNPLA3-mutant type...
June 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28642059/new-trends-on-obesity-and-nafld-in-asia
#7
REVIEW
Jian-Gao Fan, Seung-Up Kim, Vincent Wai-Sun Wong
Traditionally, obesity and its related diseases are considered problems in Western countries. However, in the past two decades, urbanization in many Asian countries has led to sedentary lifestyle and overnutrition, and has set the stage for the epidemic of obesity. This article reviews the epidemiological trend of obesity in Asia with special emphasis on the emerging condition of non-alcoholic fatty liver disease (NAFLD). Currently, the population prevalence of NAFLD in Asia is around 25%, similar to that in many Western countries...
June 19, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28626169/new-discriminant-method-for-identifying-the-aggressive-disease-phenotype-of-non-alcoholic-fatty-liver-disease
#8
Yusuke Kawamura, Kenji Ikeda, Yasuji Arase, Shunichiro Fujiyama, Tetsuya Hosaka, Masahiro Kobayashi, Satoshi Saitoh, Hitomi Sezaki, Norio Akuta, Fumitaka Suzuki, Yoshiyuki Suzuki, Hiromitsu Kumada
Objective To detect the aggressive phenotype (AP) of non-alcoholic fatty liver disease (NAFLD) based on the initial laboratory data and clinical characteristics. Methods We enrolled 144 patients with histologically proven NAFLD. For the first analysis, 24 NAFLD patients underwent repeat biopsy to establish a discriminant formula for predicting the AP of NAFLD (D-APN). The AP was defined by NAFLD that had been maintained or progressed to a fibrotic stage beyond stage 2. In the second analysis, we analyzed the distribution of the AP in each stage of disease and the incidence of the PNPLA3 rs738409 GG genotype in AP in 120 other patients...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28617615/association-between-pnpla3-gene-polymorphisms-and-risk-of-hepatitis-b-virus-related-hepatocellular-carcinoma-in-han-population-in-china-a-case-control-study
#9
Xia Gao, Wenxuan Liu, Lei Yang, Xiaolin Zhang, Ning Ma, Liqin Wang, Lina Yan, Longmei Tang, Haitao Yang, Dianwu Liu
BACKGROUND AND AIM: Several recent studies showed that the genetic polymorphisms in the PNPLA3 region (rs738408, rs738409, rs2294918, rs2294919 and rs2281135) were with related to various kinds of liver diseases. We analyzed the five single-nucleotide polymorphisms (SNPs) for major HBV outcomes in Han Chinese. METHODS: A total of 2410 samples were involved and peripheral blood samples were collected in this study. The SNPs in the PNPLA3 region were genotyped by using Matrix-assisted laser desorption/ionization time of flight mass spectrometry...
June 15, 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28611479/nafld-pnpla3-and-obesity-a-synergistic-relationship-in-nafld
#10
Jake P Mann, Quentin M Anstee
No abstract text is available yet for this article.
June 14, 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28594920/genetic-polymorphisms-associated-with-fatty-liver-disease-and-fibrosis-in-hiv-positive-patients-receiving-combined-antiretroviral-therapy-cart
#11
Leona Dold, Carolin Luda, Carolynne Schwarze-Zander, Christoph Boesecke, Cordula Hansel, Hans-Dieter Nischalke, Philipp Lutz, Raphael Mohr, Jan-Christian Wasmuth, Christian P Strassburg, Jonel Trebicka, Jürgen Kurt Rockstroh, Ulrich Spengler
Hepatic steatosis can occur with any antiretroviral therapy (cART). Although single nucleotide polymorphisms (SNPs) have been identified to predispose to alcoholic and non-alcoholic fatty liver disease, their role for treatment-associated steatosis in HIV-positive patients remains unclear. We determined the frequency of PNPLA3 (rs738409), CSPG3/NCAN (rs2228603), GCKR (rs780094), PPP1R3B (rs4240624), TM6SF (rs8542926), LYPLAL1 (rs12137855) and MBOAT7 (rs626283) by RT-PCR in 117 HIV-positive patients on cART and stratified participants based on their "controlled attenuation parameter" (CAP) into probable (CAP: 215-300 dB/m) and definite (CAP >300 dB/m) hepatic steatosis...
2017: PloS One
https://www.readbyqxmd.com/read/28586091/mutant-pnpla3-i148m-protein-as-pharmacological-target-for-liver-disease
#12
EDITORIAL
Luca Valenti, Paola Dongiovanni
No abstract text is available yet for this article.
June 6, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28574625/patatin-like-phospholipase-domain-containing-3-gene-as-a-liver-steatosis-risk-factor-following-living-donor-liver-transplantation-for-hepatitis-c
#13
Hisamitsu Miyaaki, Satoshi Miuma, Naota Taura, Hidetaka Shibata, Akihiko Soyama, Masaaki Hidaka, Mitsuhisa Takatsuki, Susumu Eguchi, Kazuhiko Nakao
Liver steatosis frequently occurs following liver transplantation (LT) and can affect patient outcome. Here, we aimed to clarify the steatosis and steatohepatitis risk factors that apply after living-donor LT for chronic hepatitis C.We retrospectively examined 43 transplant recipients and donors, and tested for single-nucleotide polymorphisms in the patatin-like phospholipase domain-containing 3 gene (PNPLA3). Liver biopsies taken 1 year after transplantation and yearly thereafter, or when abnormal liver enzyme levels were detected, were examined by histopathology...
June 2, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28555633/low-birthweight-increases-the-likelihood-of-severe-steatosis-in-pediatric-non-alcoholic-fatty-liver-disease
#14
Elisabetta Bugianesi, Carla Bizzarri, Chiara Rosso, Antonella Mosca, Nadia Panera, Silvio Veraldi, Andrea Dotta, Germana Giannone, Massimiliano Raponi, Marco Cappa, Anna Alisi, Valerio Nobili
OBJECTIVES: Small for gestational age (SGA) is associated with an increased risk of non-alcoholic fatty liver disease (NAFLD). Our aim was to investigate the correlation of birthweight with the severity of liver damage in a large cohort of children with NAFLD. METHODS: Two hundred and eighty-eight consecutive Caucasian Italian overweight/obese children with biopsy-proven NAFLD were included in the study. We examined the relative association of each histological feature of NAFLD with metabolic alterations, insulin-resistance, I148M polymorphism in the patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene, and birthweight relative to gestational age...
May 30, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28554682/liver-and-cardiovascular-damage-in-patients-with-lean-nonalcoholic-fatty-liver-disease-and-association-with-visceral-obesity
#15
Anna Ludovica Fracanzani, Salvatore Petta, Rosa Lombardi, Giuseppina Pisano, Maurizio Russello, Dario Consonni, Vito Di Marco, Calogero Cammà, Laura Mensi, Paola Dongiovanni, Luca Valenti, Antonio Craxì, Silvia Fargion
BACKGROUND & AIMS: Lean nonalcoholic fatty liver disease (NAFLD) is defined as NAFLD that develops in patients with a body mass index (BMI) less than 25 kg/m(2). We investigated the differences between lean NAFLD and NAFLD in overweight and obese persons, factors associated with the severity of liver and cardiovascular disease, and the effects of visceral obesity. METHODS: We performed a retrospective cohort study of 669 consecutive patients with biopsy-proven NAFLD seen at 3 liver centers in Italy...
May 26, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28544258/incidence-and-risk-factors-for-non-alcoholic-fatty-liver-disease-a-7-year-follow-up-study-among-urban-adult-sri-lankans
#16
Madunil A Niriella, Arunasalam Pathmeswaran, Shamila T De Silva, Anuradhani Kasturiratna, Ruwan Perera, Chamila E Subasinghe, Kuleesha Kodisinghe, Chathura Piyaratna, Vithiya Rishikesawan, Anuradha S Dassanayaka, Arjuna P De Silva, Rajitha Wickramasinghe, Fumihiko Takeuchi, Norihiro Kato, Hithanadura J de Silva
BACKGROUND: This study investigated incidence and risk factors for NAFLD among an adult cohort with 7-year follow-up. METHODS: The study population (age-stratified random sampling, Ragama MOH area) was screened initially in 2007 (aged 35-64 years) and re-evaluated in 2014 (aged 42-71 years). On both occasions assessed by structured interview, anthropometric measurements, liver ultrasound, biochemical and serological tests. NAFLD was diagnosed on ultrasound criteria, safe alcohol consumption and absence of hepatitis B/C markers...
May 19, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28520213/the-pnpla3-variant-associated-with-fatty-liver-disease-i148m-accumulates-on-lipid-droplets-by-evading-ubiquitylation
#17
Soumik BasuRay, Eriks Smagris, Jonathan C Cohen, Helen H Hobbs
A sequence variation (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is strongly associated with fatty liver disease (FLD), but the underlying mechanism remains obscure. Here we used knock-in (KI) mice (Pnpla3(148M/M) ) to examine the mechanism responsible for accumulation of triglyceride (TG) and PNPLA3 in hepatic lipid droplets (LDs). No differences were found between Pnpla3(148M/M) and Pnpla3(+/+) mice in hepatic TG synthesis, utilization, or secretion. These results are consistent with TG accumulation in the Pnpla3(148M/M) mice being caused by impaired TG mobilization from LDs...
May 18, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28497593/polymorphism-of-receptor-type-tyrosine-protein-phosphatase-delta-gene-in-the-development-of-non-alcoholic-fatty-liver-disease
#18
Shunsuke Nakajima, Hiroki Tanaka, Koji Sawada, Hidemi Hayashi, Takumu Hasebe, Masami Abe, Chitomi Hasebe, Mikihiro Fujiya, Toshikatsu Okumura
BACKGROUND AND AIM: Some single nucleotide polymorphisms (SNPs) are associated with the development of non-alcoholic fatty liver disease (NAFLD). As one of the genetic factors, PNPLA3 rs738409 (I148M) is important to associate with pathogenesis of NAFLD. Since other SNPs remain unclear in Japan, we performed high-throughput sequencing, which targeted more than 1,000 genes to identify a novel genetic variant in Japanese patients with NAFLD. METHODS: The present study in 36 NAFLD patients and 27 healthy volunteers (HVs) was performed...
May 11, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28452211/erratum-pathophysiology-and-management-of-alcoholic-liver-disease-update-2016
#19
Felix Stickel, Christian Datz, Jochen Hampe, Ramon Bataller
Page 178, Fig. 3: The following note should be included as the last line of the figure legend: "The figure has been adapted from its original published in He S, et al. A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J Biol Chem 2010;285:6706-6715.
May 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28436986/adiposity-amplifies-the-genetic-risk-of-fatty-liver-disease-conferred-by-multiple-loci
#20
Stefan Stender, Julia Kozlitina, Børge G Nordestgaard, Anne Tybjærg-Hansen, Helen H Hobbs, Jonathan C Cohen
Complex traits arise from the interplay between genetic and environmental factors. The actions of these factors usually appear to be additive, and few compelling examples of gene-environment synergy have been documented. Here we show that adiposity significantly amplifies the effect of three sequence variants (encoding PNPLA3 p.I148M, TM6SF2 p.E167K, and GCKR p.P446L) associated with nonalcoholic fatty liver disease (NAFLD). Synergy between adiposity and genotype promoted the full spectrum of NAFLD, from steatosis to hepatic inflammation to cirrhosis...
June 2017: Nature Genetics
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