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https://www.readbyqxmd.com/read/28989566/regional-differences-in-genetic-susceptibility-to-non-alcoholic-liver-disease-in-two-distinct-indian-ethnicities
#1
Govardhan Bale, Avanthi Urmila Steffie, Vishnubhotla Venkata Ravi Kanth, Padaki Nagaraja Rao, Mithun Sharma, Mitnala Sasikala, Duvvur Nageshwar Reddy
AIM: To validate the association of variants in PNPLA3 (rs2281135) and TM6SF2 (rs58542926) genes with ultrasound detected non-alcoholic fatty liver disease (NAFLD). METHODS: A total of 503 individuals with and without fatty infiltration were recruited. Fatty infiltration was confirmed based on ultrasound findings. Anthropometric data and blood samples were collected from the study group. DNA was isolated from peripheral blood, quality and quantity was assessed by gel electrophoresis and spectrophotometer respectively...
September 18, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28975533/association-of-single-nucleotide-polymorphism-at-pnpla3-with-fatty-liver-steatohepatitis-and-cirrhosis-of-liver
#2
Shahinul Alam, Mohammad Shaiful Islam, Saiful Islam, Golam Mustafa, Ahmed Abu Saleh, Nooruddin Ahmad
BACKGROUND/PURPOSE: The aim of this study was to determine the association of single nucleotide polymorphism (SNP) in patatin-like phospholipase domain-containing 3 (PNPLA3) at I148 with histological severity of non-alcoholic fatty liver disease (NAFLD). METHODS: Patients were selected for the study if they had histological evidence of NAFLD and clinical evidence of non-alcoholic steatohepatits (NASH) cirrhosis. We included 50 NASH cirrhosis, 99 patients of NAFLD including 36 non-NASH fatty liver (NNFL) along with 63 NASH and 75 healthy controls...
October 4, 2017: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/28972878/role-of-nutrition-gene-polymorphism-and-gut-microbiota-in-non-alcoholic-fatty-liver-disease
#3
Lingbo Kong, Yu Lu, Siyu Zhang, Yuemin Nan, Liang Qiao
Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in the world. The nutrients play important roles in the development and progression of NAFLD. High-calorie diet, especially the diet rich in saturated fatty acids and cholesterol, as well as sugary drinks with high fructose content, induces hepatic steatosis and triggers progression of steatohepatitis, fibrosis, and even hepatocellular carcinoma. Disordered micronutrient status and gut microbiota are also involved in the pathogenesis of NAFLD...
September 2017: Discovery Medicine
https://www.readbyqxmd.com/read/28950858/identification-of-deleterious-rare-variants-in-mttp-pnpla3-and-tm6sf2-in-japanese-males-and-association-studies-with-nafld
#4
Supichaya Boonvisut, Ken Yoshida, Kazuhiro Nakayama, Kazuhisa Watanabe, Hiroshi Miyashita, Sadahiko Iwamoto
BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is a disorder characterized by excessive fat deposits in hepatocytes without excessive alcohol intake. NAFLD is influenced by genetic factors, and the heritability has been estimated at 0.35 to 0.6 by twin studies. We explored rare variants in known NAFLD-associated genes to investigate whether these rare variants are involved in the susceptibility to NAFLD. METHODS: The target genes for re-sequencing were PNPLA3, TM6SF2, and MTTP...
September 26, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28928439/polymorphisms-in-mica-but-not-in-depdc5-hcp5-or-pnpla3-are-associated-with-chronic-hepatitis-c-related-hepatocellular-carcinoma
#5
Hoang Hai, Akihiro Tamori, Le Thi Thanh Thuy, Kanako Yoshida, Atsushi Hagihara, Etsushi Kawamura, Sawako Uchida-Kobayashi, Hiroyasu Morikawa, Masaru Enomoto, Yoshiki Murakami, Norifumi Kawada
Recently, the MICA rs2596542 and DEPDC5 rs1012068 variants in Japanese individuals as well as the HCP5 rs2244546 and PNPLA3 rs738409 variants in European individuals have been found associated with hepatocellular carcinoma (HCC). The present study determined which single nucleotide polymorphism (SNP) is the most predictive for developing hepatitis C virus (HCV)-related HCC in a Japanese cohort. Of the 4 SNPs analysed, only the MICA genotypes were significantly associated with development of HCC (p = 0.0185)...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28914407/association-of-fetuin-b-with-markers-of-liver-fibrosis-in-nonalcoholic-fatty-liver-disease
#6
Thomas Ebert, Nicolas Linder, Alexander Schaudinn, Harald Busse, Joachim Berger, Ralf Lichtinghagen, Volker Keim, Johannes Wiegand, Thomas Karlas
OBJECTIVE: The liver-derived plasma protein fetuin B is associated with nonalcoholic fatty liver disease (NAFLD) and impaired glucose homeostasis in mice. However, its association with non-invasive ultrasound- and magnetic resonance (MR)-based markers of liver fibrosis and steatosis, the enhanced liver fibrosis (ELF) score, liver biopsy, as well as rs738409 in PNPLA3, has not been elucidated in NAFLD, so far. DESIGN AND METHODS: The association of circulating fetuin B and transient elastography (TE), controlled attenuation parameter (CAP), (1)H-MR-spectroscopy, the ELF score, liver biopsy, as well as risk alleles in rs738409 in PNPLA3, was studied in 101 NAFLD patients as compared to 15 healthy controls...
September 15, 2017: Endocrine
https://www.readbyqxmd.com/read/28902428/nuclear-lamina-genetic-variants-including-a-truncated-lap2-in-twins-and-siblings-with-nonalcoholic-fatty-liver-disease
#7
Graham F Brady, Raymond Kwan, Peter J Ulintz, Phirum Nguyen, Shirin Bassirian, Venkatesha Basrur, Alexey I Nesvizhskii, Rohit Loomba, M Bishr Omary
Nonalcoholic fatty liver disease (NAFLD) is becoming the major chronic liver disease in many countries. Its pathogenesis is multifactorial but twin and familial studies indicate significant heritability, which is not fully explained by currently-known genetic susceptibility loci. Notably, mutations in genes encoding nuclear lamina proteins, including lamins, cause lipodystrophy syndromes that include NAFLD. We hypothesized that variants in lamina-associated proteins predispose to NAFLD and used a candidate gene-sequencing approach to test for variants in 10 nuclear lamina-related genes in a cohort of 37 twin and sibling pairs: 21 individuals with, and 53 without, NAFLD...
September 13, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28827398/network-analyses-identify-liver-specific-targets-for-treating-liver-diseases
#8
Sunjae Lee, Cheng Zhang, Zhengtao Liu, Martina Klevstig, Bani Mukhopadhyay, Mattias Bergentall, Resat Cinar, Marcus Ståhlman, Natasha Sikanic, Joshua K Park, Sumit Deshmukh, Azadeh M Harzandi, Tim Kuijpers, Morten Grøtli, Simon J Elsässer, Brian D Piening, Michael Snyder, Ulf Smith, Jens Nielsen, Fredrik Bäckhed, George Kunos, Mathias Uhlen, Jan Boren, Adil Mardinoglu
We performed integrative network analyses to identify targets that can be used for effectively treating liver diseases with minimal side effects. We first generated co-expression networks (CNs) for 46 human tissues and liver cancer to explore the functional relationships between genes and examined the overlap between functional and physical interactions. Since increased de novo lipogenesis is a characteristic of nonalcoholic fatty liver disease (NAFLD) and hepatocellular carcinoma (HCC), we investigated the liver-specific genes co-expressed with fatty acid synthase (FASN)...
August 21, 2017: Molecular Systems Biology
https://www.readbyqxmd.com/read/28805745/insulin-resistance-and-nafld-a-dangerous-liaison-beyond-the-genetics
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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