2016
Cross-Phenotype Polygenic Risk Score Analysis of Persistent Post-Concussive Symptoms in U.S. Army Soldiers with Deployment-Acquired Traumatic Brain Injury
Polimanti R, Chen CY, Ursano RJ, Heeringa SG, Jain S, Kessler RC, Nock MK, Smoller JW, Sun X, Gelernter J, Stein MB. Cross-Phenotype Polygenic Risk Score Analysis of Persistent Post-Concussive Symptoms in U.S. Army Soldiers with Deployment-Acquired Traumatic Brain Injury. Journal Of Neurotrauma 2016, 34: 781-789. PMID: 27439997, PMCID: PMC5314978, DOI: 10.1089/neu.2016.4550.Peer-Reviewed Original Research
2014
Low-copper diet as a preventive strategy for Alzheimer's disease
Squitti R, Siotto M, Polimanti R. Low-copper diet as a preventive strategy for Alzheimer's disease. Neurobiology Of Aging 2014, 35: s40-s50. PMID: 24913894, DOI: 10.1016/j.neurobiolaging.2014.02.031.Peer-Reviewed Original ResearchConceptsLow copper dietAlzheimer's diseasePreventive strategiesRisk of ADSporadic Alzheimer's diseaseCopper metabolismAdverse sequelaeDietary intakePathogenetic mechanismsGeneral populationAD riskPathogenic mechanismsDiseaseDietCopper deficiencyRecent studiesRiskMetabolismPhenotypeSequelaeDerangementIntake
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 ResearchAntioxidant Status and APOE Genotype As Susceptibility Factors for Neurodegeneration in Alzheimer's Disease and Vascular Dementia
Zito G, Polimanti R, Panetta V, Ventriglia M, Salustri C, Siotto MC, Moffa F, Altamura C, Vernieri F, Lupoi D, Cassetta E, Rossini PM, Squitti R. Antioxidant Status and APOE Genotype As Susceptibility Factors for Neurodegeneration in Alzheimer's Disease and Vascular Dementia. Rejuvenation Research 2013, 16: 51-56. PMID: 23216585, PMCID: PMC3582293, DOI: 10.1089/rej.2012.1383.Peer-Reviewed Original ResearchMeSH KeywordsAgedAlzheimer DiseaseAntioxidantsApolipoproteins EDementia, VascularFemaleGenetic Predisposition to DiseaseGenotypeHumansMaleConceptsAntioxidant statusΕ4 alleleVascular dementiaHealthy controlsSerum total antioxidant statusOxidative stressHigher WMH scoresTotal antioxidant statusWhite matter hyperintensitiesAPOE ε4 alleleElderly healthy controlsWMH scoresVaD patientsAtrophy assessmentLipid dyshomeostasisNeurodegenerative processesMatter hyperintensitiesPathogenetic pathwaysApolipoprotein EAlzheimer typeSystem homeostasisAlzheimer's diseaseTAS concentrationDisease riskLipid metabolismMetal-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 ResearchLinkage Disequilibrium and Haplotype Analysis of the ATP7B Gene in Alzheimer's Disease
Squitti R, Polimanti R, Bucossi S, Ventriglia M, Mariani S, Manfellotto D, Vernieri F, Cassetta E, Ursini F, Rossini PM. Linkage Disequilibrium and Haplotype Analysis of the ATP7B Gene in Alzheimer's Disease. Rejuvenation Research 2013, 16: 3-10. PMID: 22950421, PMCID: PMC3582274, DOI: 10.1089/rej.2012.1357.Peer-Reviewed Original ResearchConceptsCopper-binding domainSingle nucleotide polymorphismsInformative single nucleotide polymorphismsAssociation studiesLD blocksRole of ATP7BWide association studyLinkage disequilibrium analysisGenetic structureVariants/haplotypesGenetic association analysisTransmembrane domainSignificant lociGene sequencesGenetic association studiesATP7B geneGene regionAssociation analysisGenesDisequilibrium analysisLinkage disequilibriumNovel insightsCopper dyshomeostasisStrong LDMultiple testing correction
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 genesCopper Hypothesis in the Missing Hereditability of Sporadic Alzheimer's Disease: ATP7B Gene as Potential Harbor of Rare Variants
Squitti R, Polimanti R. Copper Hypothesis in the Missing Hereditability of Sporadic Alzheimer's Disease: ATP7B Gene as Potential Harbor of Rare Variants. Journal Of Alzheimer's Disease 2012, 29: 493-501. PMID: 22258517, DOI: 10.3233/jad-2011-111991.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesRare variantsMultiple rare variantsRare gene variantsATP7B geneGene variantsAssociation studiesHigh heritabilityGenesPotential harbourGenetic contributionCopper imbalanceSporadic Alzheimer's diseaseGenetic risk factorsHeritabilityCopper involvementPivotal roleCopper toxicosisAllele variantsRecent studiesAlzheimer's diseaseParadigmatic diseaseVariantsWilson's diseaseHereditabilityGSTM1 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
2011
GSTO1*E155del polymorphism associated with increased risk for late-onset Alzheimer's disease: Association hypothesis for an uncommon genetic variant
Piacentini S, Polimanti R, Squitti R, Mariani S, Migliore S, Vernieri F, Rossini PM, Manfellotto D, Fuciarelli M. GSTO1*E155del polymorphism associated with increased risk for late-onset Alzheimer's disease: Association hypothesis for an uncommon genetic variant. Neuroscience Letters 2011, 506: 203-207. PMID: 22100662, DOI: 10.1016/j.neulet.2011.11.005.Peer-Reviewed Original ResearchConceptsUncommon genetic variantsGSTO1-1Genetic variantsClass genesGlutathione S-transferaseGenetic variationMultifunctional enzymeCellular detoxificationAlzheimer's diseaseGSTO2 genesGenetic linkageAllele-specific PCRS-transferaseChromosome 10qAD riskGene polymorphismsInterleukin-1β activationSpecific PCRPathophysiology of ADGenesLate-onset Alzheimer's diseasePolymorphismAD risk factorsOxidative stressPCR-RFLP