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https://www.readbyqxmd.com/read/28805745/insulin-resistance-and-nafld-a-dangerous-liaison-beyond-the-genetics
#1
REVIEW
Melania Manco
Over the last decade, the understanding of the association between insulin resistance (IR) and non-alcoholic fatty liver disease (NAFLD) has dramatically evolved. There is clear understanding that carriers of some common genetic variants, i.e., the patatin-like phospholipase domain-containing 3 (PNPLA3) or the transmembrane 6 superfamily member 2 (TM6SF2) are at risk of developing severe forms of NAFLD even in the presence of reduced or absent IR. In contrast, there are obese patients with "metabolic" (non-genetically driven) NAFLD who present severe IR...
August 14, 2017: Children
https://www.readbyqxmd.com/read/28797039/impact-of-pnpla3-and-ifnl3-polymorphisms-on-hepatic-steatosis-in-asian-patients-with-chronic-hepatitis-c
#2
Chao-Min Huang, Kuo-Chin Chang, Chao-Hung Hung, King-Wah Chiu, Sheng-Nan Lu, Jing-Houng Wang, Chien-Hung Chen, Kwong-Ming Kee, Yuan-Hung Kuo, Ming-Chao Tsai, Po-Lin Tseng, Ming-Tsung Lin, Cheng-Kun Wu, Tsung-Hui Hu, Chung-Lung Cho, Yi-Hao Yen
BACKGROUND AND AIMS: A recent meta-analysis revealed that the genotype PNPLA3 rs738409 GG is associated with a higher risk of hepatic steatosis (HS) in Caucasian patients with chronic hepatitis C (CHC). However, controversial results were found regarding Asian populations. Furthermore, previous studies have shown a negative association between interferon lambda 3 (IFNL3) rs12979860 CC and HS in Caucasian CHC patients, but there have been no reports indicating any such association in Asian populations...
2017: PloS One
https://www.readbyqxmd.com/read/28776448/an-exploratory-genome-wide-analysis-of-genetic-risk-for-alcoholic-hepatitis
#3
James J Beaudoin, Nanye Long, Suthat Liangpunsakul, Puneet Puri, Patrick S Kamath, Vijay Shah, Arun J Sanyal, David W Crabb, Naga P Chalasani, Thomas J Urban
OBJECTIVES: To elucidate the genetic variability between heavy drinkers with and without alcoholic hepatitis (AH). MATERIALS AND METHODS: An exploratory genome-wide association study (GWAS; NCT02172898) was conducted comparing 90 AH cases with 93 heavy drinking matched controls without liver disease in order to identify variants or genes associated with risk for AH. Individuals were genotyped using the multi-ethnic genotyping array, after which the data underwent conventional quality control...
August 4, 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28744823/combination-of-pnpla3-and-tll1-polymorphism-can-predict-advanced-fibrosis-in-japanese-patients-with-nonalcoholic-fatty-liver-disease
#4
Yuya Seko, Kanji Yamaguchi, Naoki Mizuno, Keiichiro Okuda, Masashi Takemura, Hiroyoshi Taketani, Tasuku Hara, Atsushi Umemura, Taichiro Nishikawa, Michihisa Moriguchi, Kohichiroh Yasui, Mai Kamaguchi, Kenichi Nishioji, Naomi Mochizuki, Masao Kobayashi, Kojiroh Mori, Saiyu Tanaka, Kentaro Matsuura, Yasuhito Tanaka, Yoshito Itoh
BACKGROUND: Hepatic fibrosis is an independent risk factor for mortality and liver-related events in patients with nonalcoholic fatty liver disease (NAFLD). PNPLA3 rs738409 has been associated with fibrosis in viral and non-viral hepatitis. TLL1 rs17047200 also has been associated with developing hepatocellular carcinoma probably via hepatic fibrogenesis. We estimated the impact of these genetic polymorphisms on hepatic fibrosis in Japanese patients with NAFLD. METHODS: We analyzed the association between these genetic variants and the backgrounds of 817 individuals who received health checkups (health check cohort) from 2012 to 2014...
July 25, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28741298/ifnl4-rs368234815-tt-%C3%AE-g-variant-is-associated-with-liver-damage-in-patients-with-non-alcoholic-fatty-liver-disease
#5
Salvatore Petta, Luca Valenti, Antonino Tuttolomondo, Paola Dongiovanni, Rosaria Maria Pipitone, Calogero Cammà, Daniela Cabibi, Vito Di Marco, Anna Ludovica Fracanzani, Sara Badiali, Valerio Nobili, Silvia Fargion, Stefania Grimaudo, Antonio Craxì
BACKGROUND AND AIMS: The IFNL3/4 locus influencing innate immunity regulation has been associated with the severity of hepatitis and fibrosis progression during chronic hepatitis C infection, while contrasting results were reported in NAFLD. In this study, we examined whether rs12979860 and the linked causal rs368234815 variant encoding for the alternative IFNL4 protein variant are associated with liver fibrosis and damage in a large multicenter cohort of patients at risk of NASH. To clarify the mechanism, we also evaluated the impact on interferon-stimulated gene (ISG) hepatic expression in a subset of patients...
July 24, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28718984/effect-of-pnpla3-i148m-polymorphism-on-histologically-proven-nonalcoholic-fatty-liver-disease-in-liver-transplant-recipients
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
REVIEW
Jian-Gao Fan, Seung-Up Kim, Vincent Wai-Sun Wong
Traditionally, obesity and its related diseases have been considered a problem in Western countries. However, in the past two decades, urbanisation in many Asian countries has led to a sedentary lifestyle and overnutrition, setting 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%, like 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
August 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
#20
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
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