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Patatin-like phospholipase domain containing 3

PNPLA3, Adiponutrin
The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, AGE, Insulin, fibrillin-1, iMpact
Papers on PNPLA3
Impact of patatin-like phospholipase domain-containing 3 gene polymorphism (rs738409) on severity of liver disease in HIV/hepatitis C virus-coinfected patients.
Resino et al., Madrid, Spain. In Aids, Feb 2016
OBJECTIVE: To analyze the association between patatin-like phospholipase domain-containing 3 gene (PNPLA3) rs738409 polymorphism and severity of liver disease in HIV/hepatitis C virus-coinfected patients.
I148M variant of PNPLA3 increases the susceptibility to non-alcoholic fatty liver disease caused by obesity and metabolic disorders.
Gao et al., Shanghai, China. In Aliment Pharmacol Ther, Feb 2016
BACKGROUND: The patatin-like phospholipase 3 (PNPLA3) rs738409 gene polymorphism is an important genetic determinant of non-alcoholic fatty liver disease (NAFLD).
The characteristics of non-obese NAFLD: Effect of genetic and environmental factors.
Hotta et al., Yokohama, Japan. In Hepatol Res, Feb 2016
METHODS: The single-nucleotide polymorphism rs738409 in the patatin-like phospholipase 3 gene (PNPLA3) was genotyped by the Invader assay in 540 NAFLD patients (134 non-obese and 406 obese) and 1012 control subjects (782 non-obese and 230 obese).
Reduction of Caloric Intake Might Override the Prosteatotic Effects of the PNPLA3 p.I148M and TM6SF2 p.E167K Variants in Patients with Fatty Liver: Ultrasound-Based Prospective Study.
Milkiewicz et al., Homburg, Germany. In Digestion, Feb 2016
BACKGROUND: The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent risk factors for non-alcoholic fatty liver disease (NAFLD).
Ceramides Dissociate Steatosis and Insulin Resistance in the Human Liver in Non-Alcoholic Fatty Liver Disease.
Yki-Järvinen et al., Helsinki, Finland. In J Hepatol, Feb 2016
BACKGROUND AND AIMS: Recent data in mice have identified de novo ceramide synthesis as the key mediator of hepatic insulin resistance (IR) that in humans characterizes increases in liver fat due to IR ('Metabolic NAFLD' but not that due to the I148M gene variant in PNPLA3 ('PNPLA3 NAFLD').
A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.
Hampe et al., Dresden, Germany. In Nat Genet, Dec 2015
We identified variants in the MBOAT7 (P = 1.03 × 10(-9)) and TM6SF2 (P = 7.89 × 10(-10)) genes as new risk loci and confirmed rs738409 in PNPLA3 as an important risk locus for alcohol-related cirrhosis (P = 1.54 × 10(-48)) at a genome-wide level of significance.
Epidemiology of NAFLD and Type 2 Diabetes: Health Disparities Among Persons of Hispanic Origin.
Perez-Escamilla et al., Baltimore, United States. In Curr Diab Rep, Dec 2015
The current literature suggests a strong role of polymorphisms in the PNPLA3 gene and potential interactions with environmental factors in the pathogenesis of NAFLD.
Genetics of Alcoholic Liver Disease.
Day et al., Newcastle upon Tyne, United Kingdom. In Semin Liver Dis, Nov 2015
Translation of candidates from these studies into ALD has established a role for variants in genes including PNPLA3 and potentially TM6SF2 across the disease spectrum from steatosis, through cirrhosis to hepatocellular carcinoma.
Pathophysiology of lipid droplet proteins in liver diseases.
Ahima et al., Philadelphia, United States. In Exp Cell Res, Nov 2015
More recently, the CIDE family of proteins, hypoxia-inducible protein 2 (HIG2), and patanin-like phospholipase domain-containing 3 (PNPLA3) have also gained attention in hepatic LD biology.
The Genetics of Nonalcoholic Fatty Liver Disease: Spotlight on PNPLA3 and TM6SF2.
Day et al., Newcastle upon Tyne, United Kingdom. In Semin Liver Dis, Aug 2015
Recent advances include the identification of PNPLA3 as a modifier of disease outcome across the full spectrum of NAFLD from steatosis to advanced fibrosis and hepatocellular carcinoma; and the discovery of TM6SF2 as a potential "master regulator" of metabolic syndrome outcome, determining not only risk of advanced liver disease, but also cardiovascular disease outcomes.
Genetic Factors in the Pathogenesis of Nonalcoholic Fatty Liver and Steatohepatitis.
Valenti et al., Milano, Italy. In Biomed Res Int, 2014
Recently, genome-wide association studies led to the identification of the major inherited determinants of hepatic fat accumulation: patatin-like phospholipase domain-containing 3 (PNPLA3) I148M gene and transmembrane 6 superfamily member 2 (TM6SF2) E167K gene variants, involved in lipid droplets remodelling and very low-density lipoproteins secretion, are the major determinants of interindividual differences in liver steatosis, and susceptibility to progressive NASH.
Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease.
Cohen et al., Dallas, United States. In Nat Genet, 2014
Three variants were associated with higher liver fat levels at the exome-wide significance level of 3.6 × 10(-7): two in PNPLA3, an established locus for NAFLD, and one (encoding p.Glu167Lys) in TM6SF2, a gene of unknown function.
The association of genetic variants with hepatic steatosis in patients with genotype 1 chronic hepatitis C infection.
Muir et al., Durham, United States. In Dig Dis Sci, 2012
associated with hepatic steatosis prevalence and severity in Caucasians with genotype 1 chronic hepatitis C infection
Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis.
Fargion et al., Milano, Italy. In World J Gastroenterol, 2012
The PNPLA3 I148M polymorphism may represent a permissive factor for fibrosis progression in patients with C282Y+/+ hereditary hemochromatosis.
IL28B and PNPLA3 polymorphisms affect histological liver damage in patients with non-alcoholic fatty liver disease.
Craxì et al., Palermo, Italy. In J Hepatol, 2012
In non-alcoholic fatty liver disease patients, IL28B rs12979860 CC genotype, together with PNPLA3 rs738409 GG, is associated with the severity of liver damage.
Implications of PNPLA3 polymorphism in chronic hepatitis C patients receiving peginterferon plus ribavirin.
Fargion et al., Milano, Italy. In Aliment Pharmacol Ther, 2012
PNPLA3 p.148M/M genotype was negatively associated with sustained virological response and an association between IL28B CC genotype and more severe liver fibrosis.
PNPLA3 is regulated by glucose in human hepatocytes, and its I148M mutant slows down triglyceride hydrolysis.
Olkkonen et al., Helsinki, Finland. In Am J Physiol Endocrinol Metab, 2012
PNPLA3 in human hepatocytes is induced by glucose via a mechanism involving ChREBP. The I148M mutant inhibits breakdown of hepatocellular triglycerides. Free fatty acids potentiate the effect of PNPLA3 I148M on triglcyeride accumulation.
Adiponutrin functions as a nutritionally regulated lysophosphatidic acid acyltransferase.
Zechner et al., Graz, Austria. In Cell Metab, 2012
Numerous studies in humans link a nonsynonymous genetic polymorphism (I148M) in adiponutrin (ADPN) to various forms of fatty liver disease and liver cirrhosis.
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Kooner et al., London, United Kingdom. In Nat Genet, 2011
We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827).
Variant in PNPLA3 is associated with alcoholic liver disease.
Hinds et al., Mountain View, United States. In Nat Genet, 2010
Data show that that rs738409 in PNPLA3 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis.
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