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
2019
Genome-wide Association Study of Maximum Habitual Alcohol Intake in >140,000 U.S. European and African American Veterans Yields Novel Risk Loci
Gelernter J, Sun N, Polimanti R, Pietrzak RH, Levey DF, Lu Q, Hu Y, Li B, Radhakrishnan K, Aslan M, Cheung KH, Li Y, Rajeevan N, Sayward F, Harrington K, Chen Q, Cho K, Honerlaw J, Pyarajan S, Lencz T, Quaden R, Shi Y, Hunter-Zinck H, Gaziano JM, Kranzler HR, Concato J, Zhao H, Stein MB, Program D, Program M. Genome-wide Association Study of Maximum Habitual Alcohol Intake in >140,000 U.S. European and African American Veterans Yields Novel Risk Loci. Biological Psychiatry 2019, 86: 365-376. PMID: 31151762, PMCID: PMC6919570, DOI: 10.1016/j.biopsych.2019.03.984.Peer-Reviewed Original ResearchConceptsAdditional genome-wide significant lociRisk lociWide association study (GWAS) analysisAssociation studiesGenome-wide significant lociGenome-wide association studiesGenetic correlationsWide association studyNovel risk lociAlcohol-related traitsStrong statistical supportSmoking-related traitsAdditional genomesSignificant lociPancreatic delta cellsChromosome 4Chromosome 11Protein productsChromosome 8Quantitative phenotypesMillion Veteran ProgramVeterans Affairs Million Veteran ProgramLociCell typesChromosome 17Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations
Kranzler HR, Zhou H, Kember RL, Vickers Smith R, Justice AC, Damrauer S, Tsao PS, Klarin D, Baras A, Reid J, Overton J, Rader DJ, Cheng Z, Tate JP, Becker WC, Concato J, Xu K, Polimanti R, Zhao H, Gelernter J. Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. Nature Communications 2019, 10: 1499. PMID: 30940813, PMCID: PMC6445072, DOI: 10.1038/s41467-019-09480-8.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesMillion Veteran Program sampleGenetic correlationsWide significant lociSignificant genetic correlationsPolygenic risk scoresCell type groupSignificant lociHeritable traitEnrichment analysisTraitsMultiple populationsLociPhenotypeProgram samples
2018
Effect of the GSTM1 gene deletion on glycemic variability, sympatho-vagal balance and arterial stiffness in patients with metabolic syndrome, but without diabetes
Iorio A, Ylli D, Polimanti R, Picconi F, Maggio P, Francomano D, Aversa A, Manfellotto D, Fuciarelli M, Frontoni S. Effect of the GSTM1 gene deletion on glycemic variability, sympatho-vagal balance and arterial stiffness in patients with metabolic syndrome, but without diabetes. Diabetes Research And Clinical Practice 2018, 138: 158-168. PMID: 29452132, DOI: 10.1016/j.diabres.2018.02.006.Peer-Reviewed Original ResearchConceptsProtein kinase regulationGlutathione S-transferase geneCellular detoxification processesKinase regulationInvolvement of GSTRisk lociFunctional variantsGene deletionPutative roleDetoxification processDeletionGenesPolymorphism analysisOxidative stressCrucial roleGene polymorphism analysisGST gene polymorphismsNovel findingsGSTM1 gene deletionLociGSTM1 deletionRoleGSTRegulationPathway
2013
Intronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease
Bucossi S, Polimanti R, Ventriglia M, Mariani S, Siotto M, Ursini F, Trotta L, Scrascia F, Callea A, Vernieri F, Squitti R. Intronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease. Journal Of Alzheimer's Disease 2013, 37: 453-459. PMID: 23948886, DOI: 10.3233/jad-130431.Peer-Reviewed Original ResearchConceptsLinkage disequilibriumDisease-causing variantsCis-regulatory elementsNon-coding regionsObserved genetic associationIntronic single nucleotide polymorphismSingle nucleotide polymorphismsTranscription factorsGenetic variationATP7B variantsSilico analysisRegulatory functionsLD analysisNucleotide polymorphismsGenetic associationSites AssociatedAlzheimer's diseaseAD riskKey roleVariantsATP7B geneATP7B Variants as Modulators of Copper Dyshomeostasis in Alzheimer’s Disease
Squitti R, Polimanti R, Siotto M, Bucossi S, Ventriglia M, Mariani S, Vernieri F, Scrascia F, Trotta L, Rossini PM. ATP7B Variants as Modulators of Copper Dyshomeostasis in Alzheimer’s Disease. NeuroMolecular Medicine 2013, 15: 515-522. PMID: 23760784, DOI: 10.1007/s12017-013-8237-y.Peer-Reviewed Original ResearchMetal-score as a potential non-invasive diagnostic test for Alzheimer's disease.
Squitti R, Pasqualetti P, Polimanti R, Salustri C, Moffa F, Cassetta E, Lupoi D, Ventriglia M, Cortesi M, Siotto M, Vernieri F, Rossini PM. Metal-score as a potential non-invasive diagnostic test for Alzheimer's disease. Current Alzheimer Research 2013, 10: 191-8. PMID: 23036026, DOI: 10.2174/1567205011310020009.Peer-Reviewed Original Research
2012
Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease
Bucossi S, Polimanti R, Mariani S, Ventriglia M, Bonvicini C, Migliore S, Manfellotto D, Salustri C, Vernieri F, Rossini PM, Squitti R. Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease. Journal Of Alzheimer's Disease 2012, 29: 913-919. PMID: 22356903, DOI: 10.3233/jad-2012-111997.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAgedAged, 80 and overAlzheimer DiseaseArginineCation Transport ProteinsCopper-transporting ATPasesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansLinkage DisequilibriumLogistic ModelsLysineMaleMiddle AgedPolymorphism, Single NucleotideConceptsDisease patientsAD patientsApolipoprotein E ε4 allele frequencyAPOE ε4 variantΕ4 allele frequencyAlzheimer's disease patientsATP7B geneLocus of susceptibilityΕ4 variantHealthy controlsNeurodegenerative processesAlzheimer's diseasePatientsRisk allelesDiseaseCopper dysfunctionR alleleATP7B allelesWilson disease geneK alleleDisease genesGSTM1 null genotype as risk factor for late-onset Alzheimer's disease in Italian patients
Piacentini S, Polimanti R, Squitti R, Ventriglia M, Cassetta E, Vernieri F, Rossini PM, Manfellotto D, Fuciarelli M. GSTM1 null genotype as risk factor for late-onset Alzheimer's disease in Italian patients. Journal Of The Neurological Sciences 2012, 317: 137-140. PMID: 22381228, DOI: 10.1016/j.jns.2012.01.026.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAllelesAlzheimer DiseaseFemaleGenotypeGlutathione TransferaseHumansItalyMaleRisk FactorsWhite PeopleConceptsGSTM1 null genotypeAlzheimer's diseaseNull genotypeRisk factorsItalian patientsCause of ADLate-onset Alzheimer's diseaseLogistic regression analysisGlutathione S-transferaseCase-control populationAD patientsAD riskGSTM1 geneGSTT1 genesGenotype distributionDisease riskNeurodegenerative disordersDiseasePatientsOxidative stressEndogenous metabolitesCommon formRegression analysisPositive associationGSTM1