2023
High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities
Bloyd M, Sinaii N, Faucz F, Iben J, Coon S, Caprio S, Santoro N, Stratakis C, London E. High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities. Frontiers In Endocrinology 2023, 14: 1272939. PMID: 38027204, PMCID: PMC10679389, DOI: 10.3389/fendo.2023.1272939.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildDiabetes Mellitus, Type 2Genome-Wide Association StudyHumansMutationPediatric ObesityConceptsGenome-wide association studiesSignaling-related genesProtein kinaseHigh-frequency variantsCAMP-dependent protein kinaseLarge-scale genome-wide association studiesNew genetic associationsPDE11A geneGenomic DNAAssociation studiesMonogenic obesityTargeted exome sequencingGenesGenetic variantsEnergy metabolismGenetic associationExome sequencingNovel variantsVariant searchMetabolic characteristicsVariantsKinaseType II diabetesLociSequencingThe lncOb rs10487505 polymorphism impairs insulin sensitivity and glucose tolerance in children and adolescents with obesity
Umano G, Cirillo G, Sanchez G, Rondinelli G, Foderini M, Ferrara S, Di Sessa A, Marzuillo P, Papparella A, Santoro N, del Giudice E. The lncOb rs10487505 polymorphism impairs insulin sensitivity and glucose tolerance in children and adolescents with obesity. Obesity 2023, 31: 2359-2364. PMID: 37550829, DOI: 10.1002/oby.23835.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBody Mass IndexChildGlucoseHumansInsulinInsulin ResistanceLeptinPediatric ObesityPrediabetic StateRetrospective StudiesConceptsHomeostasis model assessmentInsulin resistanceDisposition indexLower whole-body insulin sensitivity indexModel assessmentWhole-body insulin sensitivity indexRisk of prediabetesHigher fasting insulinLower disposition indexPlasma leptin levelsInsulin sensitivity indexBMI z-scoreLeptin plasma levelsLeptin gene transcriptionFasting insulinGlucose toleranceLeptin levelsCC patientsRetrospective studyPlasma levelsAnthropometrical evaluationInsulin sensitivityHormone levelsHigh prevalenceHigh riskComparison of Metabolic Response to Colonic Fermentation in Lean Youth vs Youth With Obesity
Galuppo B, Umano G, Li Z, Van Name M, Samuels S, Kien C, Cline G, Wagner D, Barbieri E, Tricò D, Santoro N. Comparison of Metabolic Response to Colonic Fermentation in Lean Youth vs Youth With Obesity. JAMA Network Open 2023, 6: e2312530. PMID: 37159195, PMCID: PMC10170343, DOI: 10.1001/jamanetworkopen.2023.12530.Peer-Reviewed Original ResearchConceptsInsulin sensitivity indexCross-sectional studyFree fatty acidsColonic fermentationActive glucagon-like peptide-1Plasma free fatty acidsGlucagon-like peptide-1Indigestible dietary carbohydratesReduction of ghrelinActive GLP-1Health care burdenBody mass indexMetabolic responseInsulin-resistant groupLean youthObese insulinOIS groupPYY responseAnorexigenic responsePediatric obesityMass indexTyrosine tyrosineInsulin resistanceIntravenous infusionHormone secretion
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
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