2021
Host Genetic Liability for Severe COVID-19 Associates with Alcohol Drinking Behavior and Diabetic Outcomes in Participants of European Descent
Wendt FR, De Lillo A, Pathak GA, De Angelis F, Initiative C, Polimanti R. Host Genetic Liability for Severe COVID-19 Associates with Alcohol Drinking Behavior and Diabetic Outcomes in Participants of European Descent. Frontiers In Genetics 2021, 12: 765247. PMID: 34966408, PMCID: PMC8711039, DOI: 10.3389/fgene.2021.765247.Peer-Reviewed Original ResearchRisk factorsPotential long-term health effectsAlcohol drinking statusLong-term health effectsCOVID-19 risk locusCOVID-19 infectionCOVID-19 outcomesAlcohol drinking behaviorCOVID-19 epidemiologyMetformin useDiabetic outcomesHematologic biomarkersLong-term consequencesDrinking statusDepressive symptomsHealth effectsSevere responseEuropean descentDrinking behaviorGenetic liabilityInfectionMolecular mechanismsOutcomesRisk lociGenetic contribution
2020
Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
De Lillo A, Pathak GA, De Angelis F, Di Girolamo M, Luigetti M, Sabatelli M, Perfetto F, Frusconi S, Manfellotto D, Fuciarelli M, Polimanti R. Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis. Clinical Epigenetics 2020, 12: 176. PMID: 33203445, PMCID: PMC7672937, DOI: 10.1186/s13148-020-00967-6.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesMethylation sitesEpigenetic differencesSignificant epigenetic differencesProtein interaction networksSignificant methylation changesAmyloidogenic mutationsDisease-causing mutationsProtein interactorsEpigenetic regulationHigh phenotypic variabilityEpigenetic profilingMethylation changesInteraction networksGene regionBiological processesMolecular mechanismsAssociation studiesMolecular pathwaysCoding mutationsPhenotypic variabilityNovel insightsGenesFiber formationMutations
2018
Phenomic Impact of Genetically-Determined Euthyroid Function and Molecular Differences between Thyroid Disorders
Ravera S, Carrasco N, Gelernter J, Polimanti R. Phenomic Impact of Genetically-Determined Euthyroid Function and Molecular Differences between Thyroid Disorders. Journal Of Clinical Medicine 2018, 7: 296. PMID: 30248900, PMCID: PMC6210201, DOI: 10.3390/jcm7100296.Peer-Reviewed Original ResearchEuthyroid functionThyroid disordersMolecular differencesExchange factor activityGenome-wide dataMultiple testing correctionConsistent genetic correlationsFree thyroxine levelsTwo-sample Mendelian randomization studyBody fat distributionJAK/STATMendelian randomization studyPhenotypic traitsInter-individual variabilityPotential confoundersFat distributionFemale infertilityMolecular mechanismsThyroxine levelsImmune pathwaysMolecular pathwaysRandomization studyGenetic correlationsHyperthyroidismHypothyroidismLocal adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits
Polimanti R, Kayser MH, Gelernter J. Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits. Genome Medicine 2018, 10: 24. PMID: 29580271, PMCID: PMC5870256, DOI: 10.1186/s13073-018-0532-7.Peer-Reviewed Original ResearchConceptsLocal adaptationPathogen diversityEuropean populationsBehavioral traitsGenome-wide investigationGenome-wide dataPolygenic risk score analysisProtozoan diversityWinter minimum temperaturesGenetic diversityEvolutionary mechanismsPositive selectionWidespread signalMolecular mechanismsTop findingsRisk score analysisDiversityTraitsCommon variationBehavioral phenotypesAdaptationGeneticsPopulationPhenotypeMechanism
2014
GSTA1*‐69C/T and GSTO2*N142D as asthma‐ and allergy‐related risk factors in Italian adult patients
Piacentini S, Polimanti R, Iorio A, Cortesi M, Papa F, Rongioletti M, Liumbruno GM, Manfellotto D, Fuciarelli M. GSTA1*‐69C/T and GSTO2*N142D as asthma‐ and allergy‐related risk factors in Italian adult patients. Clinical And Experimental Pharmacology And Physiology 2014, 41: 180-184. PMID: 24471578, DOI: 10.1111/1440-1681.12201.Peer-Reviewed Original ResearchConceptsRespiratory allergyNovel susceptibility lociImportant biochemical featuresGSTO2 gene polymorphismsRisk factorsSingle nucleotide polymorphismsGlutathione S-transferase enzymesGenomic DNAGST genesMolecular mechanismsCellular protectionItalian adult patientsSusceptibility lociRisk of asthmaPresence of inflammationAdult study populationCommon risk factorsNucleotide polymorphismsFunctional genetic polymorphismsBiochemical featuresAdult patientsAsthmatic childrenGenesLociSubjective symptoms