2020
rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis
Teo K, Abeysekera KWM, Adams L, Aigner E, Anstee QM, Banales JM, Banerjee R, Basu P, Berg T, Bhatnagar P, Buch S, Canbay A, Caprio S, Chatterjee A, Chen Y, Chowdhury A, Daly AK, Datz C, de Gracia Hahn D, DiStefano JK, Dong J, Duret A, Investigators E, Vreugdenhil A, Alisi A, Socha P, Jańczyk W, Baumann U, Rajwal S, van Mourik I, Lacaille F, Dabbas M, Kelly D, Nobili V, Emdin C, Fairey M, Gerhard G, Consortium G, Eiriksdottir G, Garcia M, Gudnason V, Harris T, Kim L, Launer L, Nalls M, Smith A, Clark J, Hernaez R, Kao W, Mitchell B, Shuldiner A, Yerges-Armstrong L, Borecki I, Carr J, Feitosa M, Wu J, Butler J, Fox C, Hirschhorn J, Hoffmann U, Hwang S, Massaro J, O'Donnell C, Palmer C, Sahani D, Speliotes E, Guo X, Hampe J, Hickman M, Heintz L, Hudert C, Hunter H, Kelly M, Kozlitina J, Krawczyk M, Lammert F, Langenberg C, Lavine J, Li L, Lim H, Loomba R, Luukkonen P, Melton P, Mori T, Palmer N, Parisinos C, Pillai S, Qayyum F, Reichert M, Romeo S, Rotter J, Im Y, Santoro N, Schafmayer C, Speliotes E, Stender S, Stickel F, Still C, Strnad P, Taylor K, Tybjærg-Hansen A, Umano G, Utukuri M, Valenti L, Wagenknecht L, Wareham N, Watanabe R, Wattacheril J, Yaghootkar H, Yki-Järvinen H, Young K, Mann J. rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis. Journal Of Hepatology 2020, 74: 20-30. PMID: 32882372, PMCID: PMC7755037, DOI: 10.1016/j.jhep.2020.08.027.Peer-Reviewed Original ResearchMeSH KeywordsAcyltransferasesAlanine TransaminaseDrug DiscoveryGenetic Predisposition to DiseaseHumansLiverLiver CirrhosisMembrane ProteinsNon-alcoholic Fatty Liver DiseasePolymorphism, Single NucleotideConceptsFatty liver diseaseLiver diseaseAlanine aminotransferaseLiver fatRisk factorsSevere fatty liver diseaseCaucasian adultsHigh liver fatSpectrum of NAFLDDiagnosis of NAFLDSerum alanine aminotransferaseSeverity of NAFLDLower serum triglyceridesHigher alanine aminotransferaseCT/MRIDominant genetic modelRelated metabolic phenotypesGenome-wide association studiesPopulation-level dataNAFLD histologyAdvanced fibrosisLiver inflammationSerum triglyceridesHepatic fatAdvanced histologyEffect of Gut Microbiota and PNPLA3 rs738409 Variant on Nonalcoholic Fatty Liver Disease (NAFLD) in Obese Youth
Kravetz A, Testerman T, Galuppo B, Graf J, Pierpont B, Siebel S, Feinn R, Santoro N. Effect of Gut Microbiota and PNPLA3 rs738409 Variant on Nonalcoholic Fatty Liver Disease (NAFLD) in Obese Youth. The Journal Of Clinical Endocrinology & Metabolism 2020, 105: dgaa382. PMID: 32561908, PMCID: PMC7458486, DOI: 10.1210/clinem/dgaa382.Peer-Reviewed Original ResearchConceptsNon-alcoholic fatty liver diseaseHepatic fat fractionFatty liver diseasePNPLA3 rs738409Obese youthLiver diseaseGut microbiotaDifferent gut microbiota compositionNonalcoholic fatty liver diseaseOral glucose tolerance testPNPLA3 rs738409 variantPediatric obesity clinicGlucose tolerance testCross-sectional studyGut microbiota compositionAbdominal magnetic resonanceNAFLD statusRs738409 variantObesity clinicPNPLA3 genotypeObese childrenTolerance testBacteroidetes ratioCommon causeRs738409
2018
Metabolic Features of Nonalcoholic Fatty Liver (NAFL) in Obese Adolescents: Findings From a Multiethnic Cohort
Tricò D, Caprio S, Umano G, Pierpont B, Nouws J, Galderisi A, Kim G, Mata MM, Santoro N. Metabolic Features of Nonalcoholic Fatty Liver (NAFL) in Obese Adolescents: Findings From a Multiethnic Cohort. Hepatology 2018, 68: 1376-1390. PMID: 29665034, PMCID: PMC6173637, DOI: 10.1002/hep.30035.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentBiopsy, NeedleBody Mass IndexCross-Sectional StudiesFemaleGene Expression RegulationGlucose Tolerance TestHumansImmunohistochemistryInsulin ResistanceMagnetic Resonance ImagingMaleMembrane ProteinsNon-alcoholic Fatty Liver DiseasePediatric ObesityPolymerase Chain ReactionPolymorphism, Single NucleotidePrognosisProspective StudiesROC CurveConceptsNonalcoholic fatty liverNonalcoholic fatty liver diseaseOral glucose tolerance testHepatic fat fractionObese adolescentsFatty liverMagnetic resonance imagingLiver diseaseMultiethnic cohortAbdominal magnetic resonance imagingC-peptide levelsChronic liver diseaseFatty liver diseaseGlucose tolerance testSingle nucleotide polymorphismsAltered glucose homeostasisGlucose toleranceLiver steatosisProspective studyInsulin resistanceTolerance testInsulin sensitivityRisk factorsCommon causeHigh prevalenceThe rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth
Umano GR, Caprio S, Di Sessa A, Chalasani N, Dykas DJ, Pierpont B, Bale AE, Santoro N. The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth. The American Journal Of Gastroenterology 2018, 113: 376. PMID: 29485130, DOI: 10.1038/ajg.2018.1.Peer-Reviewed Original ResearchMeSH KeywordsAcyltransferasesAdolescentAllelesBlack or African AmericanChildFemaleGenetic Predisposition to DiseaseGenotypeGlucose Tolerance TestHispanic or LatinoHumansInsulin ResistanceLiverMagnetic Resonance ImagingMaleMembrane ProteinsNon-alcoholic Fatty Liver DiseasePediatric ObesityPolymorphism, Single NucleotideWhite PeopleConceptsCaucasian obese childrenMBOAT7 geneObese childrenLiver diseaseHepatic steatosisInsulin resistanceInsulin sensitivityAlcoholic fatty liver diseaseBody mass index z-scoreOral glucose tolerance testWhole-body insulin sensitivityAlcoholic liver diseaseFatty liver diseaseCurve of glucoseGlucose tolerance testIndex z-scoreMagnetic resonance imagingFatty liverPNPLA3 rs738409Liver damageTolerance testLeading causeMultiethnic cohortObese youthGlucose metabolism
2016
Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: A multiethnic study
Goffredo M, Caprio S, Feldstein AE, D'Adamo E, Shaw MM, Pierpont B, Savoye M, Zhao H, Bale AE, Santoro N. Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: A multiethnic study. Hepatology 2016, 63: 117-125. PMID: 26457389, PMCID: PMC4688225, DOI: 10.1002/hep.28283.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBlack or African AmericanChildFemaleHispanic or LatinoHumansLipoproteinsMaleMembrane ProteinsNon-alcoholic Fatty Liver DiseaseObesityPolymorphism, Single NucleotideWhite PeopleConceptsFatty liver diseaseHepatic fat contentLiver diseaseLiver biopsyTM6SF2 rs58542926Nonalcoholic fatty liver disease activity scorePediatric nonalcoholic fatty liver diseaseHigh hepatic fat contentPediatric fatty liver diseaseHigher alanine aminotransferase levelsNonalcoholic fatty liver diseaseOral glucose tolerance testMinor alleleDisease Activity ScoreIntrahepatic fat accumulationUnderwent liver biopsyAlanine aminotransferase levelsFavorable lipoprotein profileGlucose tolerance testLiver panelAminotransferase levelsCardiovascular riskActivity scoreObese childrenLipoprotein profile