2022
Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes
Wendt F, Pathak G, Polimanti R. Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes. Nature Communications 2022, 13: 7682. PMID: 36509785, PMCID: PMC9744822, DOI: 10.1038/s41467-022-35423-x.Peer-Reviewed Original ResearchConceptsProtein structureTandem repeatsTandem repeat mutationsPhenome-wide association studyAlters protein structureGenetic variationAssociation studiesEuropean ancestry participantsUK BiobankCarotid intima-media thicknessTR mutationsIntima-media thicknessMicroRNA-184Repeat mutationsFamily-based designsTestable hypothesesLociPopulation levelRespiratory outcomesMutationsDisease outcomeFAN1FNBP4Repeats
2021
ACE2 Netlas: In silico Functional Characterization and Drug-Gene Interactions of ACE2 Gene Network to Understand Its Potential Involvement in COVID-19 Susceptibility
Pathak GA, Wendt FR, Goswami A, Koller D, De Angelis F, Initiative C, Polimanti R. ACE2 Netlas: In silico Functional Characterization and Drug-Gene Interactions of ACE2 Gene Network to Understand Its Potential Involvement in COVID-19 Susceptibility. Frontiers In Genetics 2021, 12: 698033. PMID: 34512723, PMCID: PMC8429844, DOI: 10.3389/fgene.2021.698033.Peer-Reviewed Original ResearchGenome-wide association studiesGenetic variationFunctional characterizationCOVID-19 susceptibilityHuman genetic variationSilico functional characterizationDrug-gene interaction databaseTranscriptomic regulationGene networksGenetic variant associationsMetabolic domainsMulti-level characterizationPhenome-wide associationAssociation studiesDrug-gene interactionsVariant associationsInteraction databasesGenesKey adhesion moleculeGenetic variantsPhenotype categoriesPotential involvementMiRNAsAdhesion moleculesPotential mechanisms
2019
International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci
Nievergelt CM, Maihofer AX, Klengel T, Atkinson EG, Chen CY, Choi KW, Coleman JRI, Dalvie S, Duncan LE, Gelernter J, Levey DF, Logue MW, Polimanti R, Provost AC, Ratanatharathorn A, Stein MB, Torres K, Aiello AE, Almli LM, Amstadter AB, Andersen SB, Andreassen OA, Arbisi PA, Ashley-Koch AE, Austin SB, Avdibegovic E, Babić D, Bækvad-Hansen M, Baker DG, Beckham JC, Bierut LJ, Bisson JI, Boks MP, Bolger EA, Børglum AD, Bradley B, Brashear M, Breen G, Bryant RA, Bustamante AC, Bybjerg-Grauholm J, Calabrese JR, Caldas- de- Almeida J, Dale AM, Daly MJ, Daskalakis NP, Deckert J, Delahanty DL, Dennis MF, Disner SG, Domschke K, Dzubur-Kulenovic A, Erbes CR, Evans A, Farrer LA, Feeny NC, Flory JD, Forbes D, Franz CE, Galea S, Garrett ME, Gelaye B, Geuze E, Gillespie C, Uka AG, Gordon SD, Guffanti G, Hammamieh R, Harnal S, Hauser MA, Heath AC, Hemmings SMJ, Hougaard DM, Jakovljevic M, Jett M, Johnson EO, Jones I, Jovanovic T, Qin XJ, Junglen AG, Karstoft KI, Kaufman ML, Kessler RC, Khan A, Kimbrel NA, King AP, Koen N, Kranzler HR, Kremen WS, Lawford BR, Lebois LAM, Lewis CE, Linnstaedt SD, Lori A, Lugonja B, Luykx JJ, Lyons MJ, Maples-Keller J, Marmar C, Martin AR, Martin NG, Maurer D, Mavissakalian MR, McFarlane A, McGlinchey RE, McLaughlin KA, McLean SA, McLeay S, Mehta D, Milberg WP, Miller MW, Morey RA, Morris CP, Mors O, Mortensen PB, Neale BM, Nelson EC, Nordentoft M, Norman SB, O’Donnell M, Orcutt HK, Panizzon MS, Peters ES, Peterson AL, Peverill M, Pietrzak RH, Polusny MA, Rice JP, Ripke S, Risbrough VB, Roberts AL, Rothbaum AO, Rothbaum BO, Roy-Byrne P, Ruggiero K, Rung A, Rutten BPF, Saccone NL, Sanchez SE, Schijven D, Seedat S, Seligowski AV, Seng JS, Sheerin CM, Silove D, Smith AK, Smoller JW, Sponheim SR, Stein DJ, Stevens JS, Sumner JA, Teicher MH, Thompson WK, Trapido E, Uddin M, Ursano RJ, van den Heuvel LL, Van Hooff M, Vermetten E, Vinkers CH, Voisey J, Wang Y, Wang Z, Werge T, Williams MA, Williamson DE, Winternitz S, Wolf C, Wolf EJ, Wolff JD, Yehuda R, Young RM, Young KA, Zhao H, Zoellner LA, Liberzon I, Ressler KJ, Haas M, Koenen KC. International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci. Nature Communications 2019, 10: 4558. PMID: 31594949, PMCID: PMC6783435, DOI: 10.1038/s41467-019-12576-w.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesDisease genesAssociation studiesGenome-wide significant lociAfrican-ancestry analysesNon-coding RNAsGenetic risk lociParkinson's disease genesEuropean ancestry populationsNovel genesSignificant lociGenetic variationSpecific lociRisk lociAdditional lociLociAncestry populationsCommon variantsHeritability estimatesGenesGWASRNABiologySNPsPARK2
2015
Genetic diversity of disease-associated loci in Turkish population
Karaca S, Cesuroglu T, Karaca M, Erge S, Polimanti R. Genetic diversity of disease-associated loci in Turkish population. Journal Of Human Genetics 2015, 60: 193-198. PMID: 25716910, DOI: 10.1038/jhg.2015.8.Peer-Reviewed Original ResearchConceptsHealth-related traitsGenetic diversityNon-European ancestryHuman genetic variationDisease-associated lociGenetic structureComplex traitsGenetic variationTraitsEuropean individualsGenesEast populationDiversityGenetic featuresAncestryPolygenic scoresMiddle East populationLociPopulationPeculiar genetic featuresGenetic predispositionHuman groupsLarge numberTurkish populationLast finding
2014
Human pharmacogenomic variation of antihypertensive drugs: from population genetics to personalized medicine
Polimanti R, Iorio A, Piacentini S, Manfellotto D, Fuciarelli M. Human pharmacogenomic variation of antihypertensive drugs: from population genetics to personalized medicine. Pharmacogenomics 2014, 15: 157-167. PMID: 24444406, DOI: 10.2217/pgs.13.231.Peer-Reviewed Original ResearchConceptsInterpopulation differencesNext-generation sequencing technologiesAntihypertensive drug responseFunctionality of genesPopulation geneticsGenetic variationSequencing technologiesDrug responseSilico analysisGeographic originPharmacogenomic variationGenetic variantsGeneticsRare variantsPharmacogenesPharmacogenetic variationVariantsGenesPersonalized medicineVariationImportant knowledgeStage
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 geneFunctional diversity of the glutathione peroxidase gene family among human populations: implications for genetic predisposition to disease and drug response
Polimanti R, Fuciarelli M, Destro-Bisol G, Battaggia C. Functional diversity of the glutathione peroxidase gene family among human populations: implications for genetic predisposition to disease and drug response. Pharmacogenomics 2013, 14: 1037-1045. PMID: 23837478, DOI: 10.2217/pgs.13.99.Peer-Reviewed Original ResearchConceptsGlutathione peroxidase gene familyPeroxidase gene familyHuman genetic variationFunctional prediction analysisHigh functional impactHuman populationGenomes Project dataGene familyFunctional diversityRedox regulationGenetic variationDrug responseFunctional differencesFunctional impactAdaptation signalsCommon variantsDiverse responsesGlutathione peroxidaseRare variantsGPX3GPX1Prediction analysisVariantsDiverse susceptibilityDiversity
2012
Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations
Polimanti R, Piacentini S, Manfellotto D, Fuciarelli M. Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations. Pharmacogenomics 2012, 13: 1951-1960. PMID: 23215887, DOI: 10.2217/pgs.12.163.Peer-Reviewed Original ResearchConceptsGenetic diversityHuman genetic diversityHuman genetic variationHuman Genome Diversity ProjectFunctional differencesHuman populationRole of CYP450Functional diversityGenetic variationRelated clinical phenotypesHigh differentiationCYP450 genesHapMap dataDiversity ProjectHuman adaptationF-statisticsDiversityGenesWorldwide populationDrug responseComputational analysisClinical phenotypeAdaptationCYP450Interethnic differences
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