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Habeeb Salameh, Muhannad Al Hanayneh, Maen Masadeh, Mohammed Naseemuddin, Tasnia Matin, Angelika Erwin, Ashwani K Singal
Background and Aims:Patatin-like phospholipase domain protein 3 (PNPLA3) polymorphisms (rs738409 C>G) are associated with non-alcoholic fatty liver disease (NAFLD). We performed a systematic review and meta-analysis to examine the association of PNPLA3 polymorphisms with the spectrum and severity of this disease. Methods: Studies evaluating the association between the PNPLA3 polymorphism spectrum (fatty liver, steatohepatitis, cirrhosis, and hepatocellular carcinoma) and NAFLD were included. Pooled data are reported as odds ratios (ORs) with 95% confidence intervals...
September 28, 2016: Journal of Clinical and Translational Hepatology
Yvonne N Flores, Rafael Velázquez-Cruz, Paula Ramírez, Manuel Bañuelos, Zuo-Feng Zhang, Hal F Yee, Shen-Chih Chang, Samuel Canizales-Quinteros, Manuel Quiterio, Guillermo Cabrera-Alvarez, Nelly Patiño, Jorge Salmerón
There is scarce information about the link between specific single-nucleotide polymorphisms (SNPs) and risk of liver disease among Latinos, despite the disproportionate burden of disease among this population. Our aim was to investigate nine SNPs in or near the following genes: PNPLA3, LYPLAL1, PPP1R3B, GCKR, NCAN, IRS1, PPARG, and ADIPOR2 and examine their association with persistently elevated alanine aminotransferase (ALT) or aspartate aminotransferase (AST) levels in Mexican adults. Data and samples were collected from 741 participants in the Mexican Health Worker Cohort Study, in Cuernavaca, Mexico...
October 17, 2016: Molecular Biology Reports
Wanqing Liu, Quentin M Anstee, Xiaoliang Wang, Samer Gawrieh, Eric R Gamazon, Shaminie Athinarayanan, Yang-Lin Liu, Rebecca Darlay, Heather J Cordell, Ann K Daly, Chris P Day, Naga Chalasani
The increased expression of PNPLA3(148M) leads to hepatosteatosis in mice. This study aims to investigate the genetic control of hepatic PNPLA3 transcription and to explore its impact on NAFLD risk in humans. Through a locus-wide expression quantitative trait loci (eQTL) mapping in two human liver sample sets, a PNPLA3 intronic SNP, rs139051 A>G was identified as a significant eQTL (p = 6.6×10(-8)) influencing PNPLA3 transcription, with the A allele significantly associated with increased PNPLA3 mRNA. An electrophoresis mobility shift assay further demonstrated that the A allele has enhanced affinity to nuclear proteins than the G allele...
October 13, 2016: Aging
Piero Pingitore, Paola Dongiovanni, Benedetta Maria Motta, Marica Meroni, Saverio Massimo Lepore, Rosellina Margherita Mancina, Serena Pelusi, Cristina Russo, Andrea Caddeo, Giorgio Rossi, Tiziana Montalcini, Arturo Pujia, Olov Wiklund, Luca Valenti, Stefano Romeo
Liver fibrosis is a pathological scarring response to chronic hepatocellular injury and hepatic stellate cells (HSCs) are key players in this process. PNPLA3 I148M is a common variant robustly associated with liver fibrosis but the mechanisms underlying this association are unknown.We aimed to examine a) the effect of fibrogenic and proliferative stimuli on PNPLA3 levels in HSCs and b) the role of wild type and mutant PNPLA3 overexpression on markers of HSC activation and fibrosis.Here we show that PNPLA3 is upregulated by the fibrogenic cytokine transforming growth factor-beta (TGF-β), but not by platelet-derived growth factor (PDGF), and is involved in the TGF-β-induced reduction in lipid droplets in primary human HSCs...
October 13, 2016: Human Molecular Genetics
Carrie R Wong, Mindie H Nguyen, Joseph K Lim
Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in the United States and represents an increasingly important etiology of hepatocellular carcinoma (HCC) with annual cumulative incidence rates ranging from 2% to 12% in cohorts of NAFLD cirrhosis. While the risk of progression of NAFLD to HCC remains higher among patients with fibrosis or cirrhosis, an increasing amount of literature describes NAFLD-HCC as a disease that can occur in the absence of cirrhosis. Efforts to characterize the pathogenesis of NAFLD-HCC have suggested mechanisms that strongly associate with states of hyperinsulinemia and chronic inflammation, cellular mechanisms including adaptive immune responses and hepatic progenitor cell populations, and genetic polymorphisms including mutations of PNPLA3...
October 7, 2016: World Journal of Gastroenterology: WJG
Anna Ludovica Fracanzani, Giuseppina Pisano, Dario Consonni, Silvia Tiraboschi, Andrea Baragetti, Cristina Bertelli, Giuseppe Danilo Norata, Paola Dongiovanni, Luca Valenti, Liliana Grigore, Tatiana Tonella, Alberico Catapano, Silvia Fargion
BACKGROUND AND AIMS: Epicardial adipose tissue (EAT) has been proposed as a cardiometabolic and hepatic fibrosis risk factor in patients with non alcoholic fatty liver disease (NAFLD). Aim of this study was to evaluate the role of EAT in NAFLD by analyzing 1) the association between EAT, the other metabolic parameters and the severity of steatosis 2) the relationship between cardiovascular (cIMT, cplaques, E/A), liver (presence of NASH and significant fibrosis) damage and metabolic risk factors including EAT 3) the relationship between EAT and genetic factors strongly influencing liver steatosis...
2016: PloS One
Rosalinda Posadas-Sánchez, Ángel René López-Uribe, Carlos Posadas-Romero, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, Wendy Angélica Ocampo-Arcos, José Manuel Fragoso, Guillermo Cardoso-Saldaña, Gilberto Vargas-Alarcón
The aim of this study was to evaluate the potential use of the I148M/PNPLA3 (rs738409) gene polymorphism as a susceptibility marker for premature coronary artery disease (pCAD) and/or cardiovascular risk factors in Mexican type 2 diabetes mellitus patients (T2DM). The polymorphism was genotyped by 5' exonuclease TaqMan assays in a group of 2572 subjects (1103 with pCAD and 1469 healthy controls) belonging to the Genetics of Atherosclerotic Disease (GEA) Mexican Study. Anthropometric and biochemical measurements were performed in all individuals...
September 3, 2016: Immunobiology
Rohini Mehta, Kianoush Jeiran, Aaron B Koenig, Munkzhul Otgonsuren, Zachary Goodman, Ancha Baranova, Zobair Younossi
BACKGROUND: Visceral obesity and metabolic syndrome are commonly associated with non-alcoholic fatty liver disease (NAFLD). The progression of steatosis to NASH depends on a number of metabolic and patient-related factors. The mechanisms of genetic predisposition towards the development of NASH and related fibrosis remain unclear. In this study, our aim was to utilize mitotyping and identify mitochondrial haplotypes that may be associated with NAFLD. METHODS: We examined mitochondrial haplotypes along with patatin-like phospholipase domain containing 3 (PNPLA3) rs738409 genotype to determine their association with NAFLD phenotypes...
2016: BMC Medical Genetics
Donghee Kim, W Ray Kim
Nonalcoholic fatty liver disease (NAFLD) refers to a group of conditions characterized by hepatic steatosis in the absence of significant alcohol consumption. NAFLD is commonly seen in patients with metabolic abnormalities associated with obesity, such as type II diabetes, dyslipidemia, and metabolic syndrome. Evidently, however, not all obese subjects develop NAFLD and, more importantly, NAFLD can be found in non-obese individuals. While NAFLD occurring in non-obese subjects has been reported in children and adults of all ethnicities, it appears to be recognized more frequently in Asians, even when strict ethnicity-specific body mass index criteria are used to define obesity...
August 28, 2016: Clinical Gastroenterology and Hepatology
Marcin Krawczyk, Raúl Jiménez-Agüero, José M Alustiza, José I Emparanza, María J Perugorria, Luis Bujanda, Frank Lammert, Jesús M Banales
BACKGROUND: Obesity is the major trigger of nonalcoholic fatty liver disease (NAFLD). NAFLD is further favored by the patatin-like phospholipase domain-containing 3 (PNPLA3) p.I148M, transmembrane 6 superfamily member 2 (TM6SF2) p.E167K, and membrane-bound O-acyltransferase domain containing 7 (MBOAT7) rs641738 variants. OBJECTIVES: To investigate the relationship between the PNPLA3, TM6SF2, and MBOAT7 genotypes and the outcomes of bariatric surgery. SETTING: University hospital...
July 1, 2016: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
Felix Stickel, Christophe Moreno, Jochen Hampe, Marsha Y Morgan
The susceptibility to develop alcohol dependence and significant alcohol-related liver injury is determined by a number of constitutional, environmental and genetic factors, although the nature and level of interplay between them remains unclear. The familiarity and heritability of alcohol dependence is well-documented but, to date, no strong candidate genes have emerged with the exception of variants in alcohol dehydrogenase and acetaldehyde dehydrogenase, which confer protection predominantly in individuals of East Asian ancestry...
August 26, 2016: Journal of Hepatology
Ivana A Stojkovic, Ulrika Ericson, Gull Rukh, Martin Ridderstråle, Stefano Romeo, Marju Orho-Melander
[This corrects the article DOI: 10.1007/s12263-014-0388-4.].
2016: Genes & Nutrition
Anthony W H Chan, Grace L H Wong, Hoi-Yun Chan, Joanna H M Tong, Yau-Hei Yu, Paul C L Choi, Henry L Y Chan, Ka-Fai To, Vincent W S Wong
BACKGROUND & AIMS: Concurrent fatty liver in hepatitis B virus (HBV)-infected patients without significant alcohol intake is a frequent and increasingly alarming problem due to the non-alcoholic fatty liver disease (NAFLD) pandemic. Concomitant obesity and diabetes increase the risk of HBV-related hepatocellular carcinoma (HCC) development. Direct evidence of the hepatocarcinogenic effect of fatty liver in chronic HBV remains elusive. We aimed to evaluate the risk of concurrent histologically-proven fatty liver in HBV hepatocarcinogenesis...
August 22, 2016: Journal of Gastroenterology and Hepatology
Tyler J Severson, Siddesh Besur, Herbert L Bonkovsky
AIM: To investigate roles of genetic polymorphisms in non-alcoholic fatty liver disease (NAFLD) onset, severity, and outcome through systematic literature review. METHODS: The authors conducted both systematic and specific searches of PubMed through December 2015 with special emphasis on more recent data (from 2012 onward) while still drawing from more historical data for background. We identified several specific genetic polymorphisms that have been most researched and, at this time, appear to have the greatest clinical significance on NAFLD and similar hepatic diseases...
August 7, 2016: World Journal of Gastroenterology: WJG
Guohe Song, Chao Xiao, Kai Wang, Yupeng Wang, Jian Chen, Yang Yu, Zhaowen Wang, Guilong Deng, Xing Sun, Lin Zhong, Chongzhi Zhou, Xiaosheng Qi, Shuyun Wang, Zhihai Peng, Xiaoliang Wang
Gene polymorphisms had been found to be associated with increased risk of nonalcoholic fatty liver disease (NAFLD). The aim of the present study was to assess the association between rs2896019 and rs3810622 in PNPLA3 with the susceptibility to NAFLD in Han Chinese population.A total of 384 NAFLD patients and 384 controls were enrolled in the study. Blood samples collected from each subject were used for biochemical index analysis and DNA extraction. Genotyping analyses of PNPLA3 rs2896019 and rs3810622 were performed by real-time PCR methods...
August 2016: Medicine (Baltimore)
Xiaoliang Wang, Zhipeng Liu, Kai Wang, Zhaowen Wang, Xing Sun, Lin Zhong, Guilong Deng, Guohe Song, Baining Sun, Zhihai Peng, Wanqing Liu
Recent genome-wide association studies have identified that variants in or near PNPLA3, NCAN, GCKR, LYPLAL1, and TM6SF2 are significantly associated with non-alcoholic fatty liver disease (NAFLD) in multiple ethnic groups. Studies on their impact on NAFLD in Han Chinese are still limited. In this study, we examined the relevance of these variants to NAFLD in a community-based Han Chinese population and further explored their potential joint effect on NAFLD. Six single nucleotide polymorphisms (SNPs) (PNPLA3 rs738409, rs2294918, NCAN rs2228603, GCKR rs780094, LYPLAL1 rs12137855, and TM6SF2 rs58542926) previously identified in genome-wide analyses, to be associated with NAFLD were genotyped in 384 NAFLD patients and 384 age- and gender-matched healthy controls...
2016: Frontiers in Genetics
Alexandra Feldman, Sebastian K Eder, Thomas K Felder, Lyudmyla Kedenko, Bernhard Paulweber, Andreas Stadlmayr, Ursula Huber-Schönauer, David Niederseer, Felix Stickel, Simon Auer, Elisabeth Haschke-Becher, Wolfgang Patsch, Christian Datz, Elmar Aigner
OBJECTIVES: Non-alcoholic fatty liver disease (NAFLD) is closely linked to obesity; however, 5-8% of lean subjects also have evidence of NAFLD. We aimed to investigate clinical, genetic, metabolic and lifestyle characteristics in lean Caucasian subjects with NAFLD. METHODS: Data from 187 subjects allocated to one of the three groups according to body mass index (BMI) and hepatic steatosis on ultrasound were obtained: lean healthy (BMI≤25 kg/m(2), no steatosis, N=71), lean NAFLD (BMI≤25 kg/m(2), steatosis, N=55), obese NAFLD (BMI≥30 kg/m(2), steatosis; N=61)...
August 16, 2016: American Journal of Gastroenterology
Verena Wieser, Timon E Adolph, Barbara Enrich, Patrizia Moser, Alexander R Moschen, Herbert Tilg
BACKGROUND & AIMS: Obesity and its related co-morbidities such as non-alcoholic fatty liver disease (NAFLD) are increasing dramatically worldwide. The genetic variation in Patatin-like phospholipase domain-containing protein 3 (PNPLA3), which is also called adiponutrin (ADPN), in residue 148 (I148M, rs738409) has been associated with NAFLD. However, the regulation and function of PNPLA3 in metabolic diseases remains unclear. Laparoscopic gastric banding (LAGB) of severely obese patients reduces body weight, liver and adipose tissue inflammation...
August 12, 2016: Liver International: Official Journal of the International Association for the Study of the Liver
B Q An, M Jiang, Y T Cheng, C Yuan, L L Lu, Y N Xin, S Y Xuan
OBJECTIVE: To investigate the influence of leptin receptor (LEPR) gene K109R polymorphism on the risk of nonalcoholic fatty liver disease (NAFLD) and its interaction with PNPLA3 I148M polymorphism in the Han Chinese population in Qingdao, China. METHODS: Blood samples were collected from 296 NAFLD patients and 321 healthy controls, and the genotypes of these patients were determined by PCR and genotyping. Related statistical analyses were performed to compare genotypes, alleles, and clinical data between the two groups...
May 20, 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
Giovanni Galati, Chiara Dell'Unto, Umberto Vespasiani-Gentilucci, Antonio De Vincentis, Paolo Gallo, Alessandro Guidi, Antonio Picardi
Hepatocellular Carcinoma (HCC) is a major healthcare problem. Almost ninety percent of HCCs develops on cirrhosis due to chronic viral hepatitis, Non-Alcoholic Steatohepatitis (NASH) and alcohol abuse. Alcohol itself is defined a strong human carcinogenic agent. Some genetic polymorphisms in alcohol-metabolizing systems and more recently, some sequence variations within the genes coding for patatin-like phospholipase encoding 3 (PNPLA3) and Transmembrane 6 superfamily 2 (TM6SF2), have been found to promote liver fibrosis in alcohol abuse, until HCC development...
2016: Reviews on Recent Clinical Trials
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