2020
Effect 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
The 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 metabolismChapter 4 Obesity and Type 2 Diabetes in Youths New Challenges to Overcome
Santoro N, Giannini C, Caprio S. Chapter 4 Obesity and Type 2 Diabetes in Youths New Challenges to Overcome. 2018, 43-52. DOI: 10.1016/b978-0-12-812019-4.00004-0.ChaptersInsulin resistanceAge groupsΒ-cellsChapter 4 ObesityPediatric age groupEctopic fat depositionProgression of obesityType 2 diabetesOvert diabetesObesity complicationsObese childrenChildhood obesityMore insulinSerum glucoseInsulin secretionPediatric diseasesNormal rangeType 2Progressive deteriorationObesityFat depositionDiabetesDiseaseComplicationsGroup
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 ResearchConceptsFatty 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
2012
Metabolic Syndrome in Childhood as a Risk Factor for Type 2 Diabetes
Santoro N, Giannini C, Caprio S. Metabolic Syndrome in Childhood as a Risk Factor for Type 2 Diabetes. 2012, 83-91. DOI: 10.1007/978-1-4471-2366-8_4.ChaptersType 2 diabetesMetabolic syndromeInsulin resistanceObese childrenInsulin-resistant statesObese subjectsGlucose dysregulationChildhood obesityRisk factorsWorldwide epidemicFrequent causeSex steroidsType 2DiabetesGrowth hormoneSyndromeObesityInsulin effectPutative defectPrevalenceChildrenCarbohydrate metabolismProgressionPathogenesisPediatricsChapter 6 Obesity and Type 2 Diabetes in Youths New Challenges to Overcome
Santoro N, Giannini C, Caprio S. Chapter 6 Obesity and Type 2 Diabetes in Youths New Challenges to Overcome. 2012, 77-87. DOI: 10.1016/b978-0-12-385083-6.00006-1.ChaptersInsulin resistanceΒ-cellsChapter 6 ObesityEctopic fat depositionProgression of obesityType 2 diabetesObesity complicationsObese childrenPediatric ageChildhood obesityMore insulinSerum glucoseInsulin secretionPediatric diseasesNormal rangeType 2Progressive deteriorationObesityFat depositionDiseaseInsulinComplicationsDiabetesPediatriciansPrevalence
2001
Mutational Screening of the CART Gene in Obese Children Identifying a Mutation (Leu34Phe) Associated With Reduced Resting Energy Expenditure and Cosegregating With Obesity Phenotype in a Large Family
del Giudice E, Santoro N, Cirillo G, D’Urso L, Di Toro R, Perrone L. Mutational Screening of the CART Gene in Obese Children Identifying a Mutation (Leu34Phe) Associated With Reduced Resting Energy Expenditure and Cosegregating With Obesity Phenotype in a Large Family. Diabetes 2001, 50: 2157-2160. PMID: 11522684, DOI: 10.2337/diabetes.50.9.2157.Peer-Reviewed Original ResearchConceptsObesity onsetObesity phenotypesEnergy expenditureZ-scoreObese Italian childrenSevere obesity phenotypeBMI z-scoreAmphetamine-regulated transcriptResting Energy ExpenditureCART geneCodon 34CART effectsSympathetic outflowObese patientsLeptin levelsObese childrenObese subjectsHypothalamic areaBMI percentileAppetite regulationCART peptideObese boysAverage agePatientsControl population