2021
Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank
De Lillo A, D'Antona S, Pathak GA, Wendt FR, De Angelis F, Fuciarelli M, Polimanti R. Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank. Human Molecular Genetics 2021, 30: 1457-1467. PMID: 33890984, PMCID: PMC8283210, DOI: 10.1093/hmg/ddab114.Peer-Reviewed Original ResearchConceptsGWS associationsHeterogeneous lociGenome-wide association studiesEuropean populationsAncestry-specific effectsAllele frequenciesWide significant associationsPhenome-wide analysisAncestry groupsComplex traitsLD variationPhenotypic classesAssociation studiesUK BiobankMapping variantsLociConcordant effectsCentral/South AsianAncestryWorldwide populationTraitsAsian ancestryDiscordant effectsSouth Asian ancestryEuropean descent
2020
Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies
Munn‐Chernoff M, Johnson EC, Chou Y, Coleman JRI, Thornton LM, Walters RK, Yilmaz Z, Baker JH, Hübel C, Gordon S, Medland SE, Watson HJ, Gaspar HA, Bryois J, Hinney A, Leppä VM, Mattheisen M, Ripke S, Yao S, Giusti‐Rodríguez P, Hanscombe KB, Adan RAH, Alfredsson L, Ando T, Andreassen OA, Berrettini WH, Boehm I, Boni C, Perica V, Buehren K, Burghardt R, Cassina M, Cichon S, Clementi M, Cone RD, Courtet P, Crow S, Crowley JJ, Danner UN, Davis OSP, de Zwaan M, Dedoussis G, Degortes D, DeSocio JE, Dick DM, Dikeos D, Dina C, Dmitrzak‐Weglarz M, Docampo E, Duncan LE, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Farmer A, Favaro A, Fernández‐Aranda F, Fichter MM, Fischer K, Föcker M, Foretova L, Forstner AJ, Forzan M, Franklin CS, Gallinger S, Giegling I, Giuranna J, Gonidakis F, Gorwood P, Mayora M, Guillaume S, Guo Y, Hakonarson H, Hatzikotoulas K, Hauser J, Hebebrand J, Helder SG, Herms S, Herpertz‐Dahlmann B, Herzog W, Huckins LM, Hudson JI, Imgart H, Inoko H, Janout V, Jiménez‐Murcia S, Julià A, Kalsi G, Kaminská D, Karhunen L, Karwautz A, Kas MJH, Kennedy JL, Keski‐Rahkonen A, Kiezebrink K, Kim Y, Klump KL, Knudsen GPS, La Via MC, Le Hellard S, Levitan RD, Li D, Lilenfeld L, Lin BD, Lissowska J, Luykx J, Magistretti PJ, Maj M, Mannik K, Marsal S, Marshall CR, Mattingsdal M, McDevitt S, McGuffin P, Metspalu A, Meulenbelt I, Micali N, Mitchell K, Monteleone AM, Monteleone P, Nacmias B, Navratilova M, Ntalla I, O'Toole JK, Ophoff RA, Padyukov L, Palotie A, Pantel J, Papezova H, Pinto D, Rabionet R, Raevuori A, Ramoz N, Reichborn‐Kjennerud T, Ricca V, Ripatti S, Ritschel F, Roberts M, Rotondo A, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer SW, Schmidt U, Schork NJ, Schosser A, Seitz J, Slachtova L, Slagboom PE, Landt M, Slopien A, Sorbi S, Świątkowska B, Szatkiewicz JP, Tachmazidou I, Tenconi E, Tortorella A, Tozzi F, Treasure J, Tsitsika A, Tyszkiewicz‐Nwafor M, Tziouvas K, van Elburg A, van Furth E, Wagner G, Walton E, Widen E, Zeggini E, Zerwas S, Zipfel S, Bergen AW, Boden JM, Brandt H, Crawford S, Halmi KA, Horwood LJ, Johnson C, Kaplan AS, Kaye WH, Mitchell J, Olsen CM, Pearson JF, Pedersen NL, Strober M, Werge T, Whiteman DC, Woodside DB, Grove J, Henders AK, Larsen JT, Parker R, Petersen LV, Jordan J, Kennedy MA, Birgegård A, Lichtenstein P, Norring C, Landén M, Mortensen PB, Polimanti R, McClintick JN, Adkins AE, Aliev F, Bacanu S, Batzler A, Bertelsen S, Biernacka JM, Bigdeli TB, Chen L, Clarke T, Degenhardt F, Docherty AR, Edwards AC, Foo JC, Fox L, Frank J, Hack LM, Hartmann AM, Hartz SM, Heilmann‐Heimbach S, Hodgkinson C, Hoffmann P, Hottenga J, Konte B, Lahti J, Lahti‐Pulkkinen M, Lai D, Ligthart L, Loukola A, Maher BS, Mbarek H, McIntosh AM, McQueen MB, Meyers JL, Milaneschi Y, Palviainen T, Peterson RE, Ryu E, Saccone NL, Salvatore JE, Sanchez‐Roige S, Schwandt M, Sherva R, Streit F, Strohmaier J, Thomas N, Wang J, Webb BT, Wedow R, Wetherill L, Wills AG, Zhou H, Boardman JD, Chen D, Choi D, Copeland WE, Culverhouse RC, Dahmen N, Degenhardt L, Domingue BW, Frye MA, Gäebel W, Hayward C, Ising M, Keyes M, Kiefer F, Koller G, Kramer J, Kuperman S, Lucae S, Lynskey MT, Maier W, Mann K, Männistö S, Müller‐Myhsok B, Murray AD, Nurnberger JI, Preuss U, Räikkönen K, Reynolds MD, Ridinger M, Scherbaum N, Schuckit MA, Soyka M, Treutlein J, Witt SH, Wodarz N, Zill P, Adkins DE, Boomsma DI, Bierut LJ, Brown SA, Bucholz KK, Costello EJ, de Wit H, Diazgranados N, Eriksson JG, Farrer LA, Foroud TM, Gillespie NA, Goate AM, Goldman D, Grucza RA, Hancock DB, Harris KM, Hesselbrock V, Hewitt JK, Hopfer CJ, Iacono WG, Johnson EO, Karpyak VM, Kendler KS, Kranzler HR, Krauter K, Lind PA, McGue M, MacKillop J, Madden PAF, Maes HH, Magnusson PKE, Nelson EC, Nöthen MM, Palmer AA, Penninx BWJH, Porjesz B, Rice JP, Rietschel M, Riley BP, Rose RJ, Shen P, Silberg J, Stallings MC, Tarter RE, Vanyukov MM, Vrieze S, Wall TL, Whitfield JB, Zhao H, Neale BM, Wade TD, Heath AC, Montgomery GW, Martin NG, Sullivan PF, Kaprio J, Breen G, Gelernter J, Edenberg HJ, Bulik CM, Agrawal A. Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies. Addiction Biology 2020, 26: e12880. PMID: 32064741, PMCID: PMC7429266, DOI: 10.1111/adb.12880.Peer-Reviewed Original Research
2019
Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium
Polimanti R, Peterson RE, Ong JS, MacGregor S, Edwards AC, Clarke TK, Frank J, Gerring Z, Gillespie NA, Lind PA, Maes HH, Martin NG, Mbarek H, Medland SE, Streit F, Agrawal A, Edenberg H, Kendler K, Lewis C, Sullivan P, Wray N, Gelernter J, Derks E. Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium. Psychological Medicine 2019, 49: 1218-1226. PMID: 30929657, PMCID: PMC6565601, DOI: 10.1017/s0033291719000667.Peer-Reviewed Original ResearchConceptsMajor depressionAlcohol dependenceAlcohol consumptionPsychiatric Genomics ConsortiumImportant public health concernMendelian randomizationPublic health concernUK BiobankClinical associationsHealth concernMR analysisReverse causationCausal roleNon-significant resultsCausal relationshipGenetic liabilityGenomics ConsortiumLinkage disequilibrium score regressionIntervention efforts
2016
Genetic factor common to schizophrenia and HIV infection is associated with risky sexual behavior: antagonistic vs. synergistic pleiotropic SNPs enriched for distinctly different biological functions
Wang Q, Polimanti R, Kranzler HR, Farrer LA, Zhao H, Gelernter J. Genetic factor common to schizophrenia and HIV infection is associated with risky sexual behavior: antagonistic vs. synergistic pleiotropic SNPs enriched for distinctly different biological functions. Human Genetics 2016, 136: 75-83. PMID: 27752767, PMCID: PMC5215962, DOI: 10.1007/s00439-016-1737-8.Peer-Reviewed Original ResearchEvidence of Polygenic Adaptation in the Systems Genetics of Anthropometric Traits
Polimanti R, Yang BZ, Zhao H, Gelernter J. Evidence of Polygenic Adaptation in the Systems Genetics of Anthropometric Traits. PLOS ONE 2016, 11: e0160654. PMID: 27537407, PMCID: PMC4990182, DOI: 10.1371/journal.pone.0160654.Peer-Reviewed Original ResearchConceptsPolygenic adaptationNatural selectionSystems geneticsProtein interaction networksWide association studyPolygenic mechanismsEuropean populationsPolygenic selectionAnthropometric traitsGene networksHuman genomeEpistatic interactionsInteraction networksEnrichment analysisGenetic signaturesSystems biologyAssociation studiesLipid transportMolecular processesAdaptation signalsLocomotory behaviorTraitsSelective mechanismGeneticsInfection resistance
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 geneLinkage 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
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 differencesAssociation 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 genes
2011
HapMap-based study of human soluble glutathione S-transferase enzymes
Polimanti R, Piacentini S, Fuciarelli M. HapMap-based study of human soluble glutathione S-transferase enzymes. Pharmacogenetics And Genomics 2011, 21: 665-672. PMID: 21799460, DOI: 10.1097/fpc.0b013e328349da4d.Peer-Reviewed Original ResearchConceptsNatural selectionGST genesGenetic variabilityGlutathione S-transferase enzymesSingle nucleotide polymorphism (SNP) diversityHuman genome regionsHuman demographic historyHuman genetic variabilityGST SNPsInternational HapMap ProjectSingle nucleotide substitutionChromosomal clustersDemographic historyGenome regionsGenome scanCellular detoxificationCandidate genesHapMap projectNucleotide substitutionsGenesHapMap dataComplex diseasesPopulation differencesF-statisticsSNPs
2000
Human GST Loci as Markers of Evolutionary Forces: GSTO1*E155del and GSTO1*E208K Polymorphisms May Be Under Natural Selection Induced by Environmental Arsenic
Polimanti R, Piacentini S, De Angelis F, De Stefano GF, Fuciarelli M. Human GST Loci as Markers of Evolutionary Forces: GSTO1*E155del and GSTO1*E208K Polymorphisms May Be Under Natural Selection Induced by Environmental Arsenic. Disease Markers 2000, 31: 231-239. PMID: 22045430, PMCID: PMC3826775, DOI: 10.3233/dma-2011-0821.Peer-Reviewed Original ResearchMeSH KeywordsArsenicBiotransformationBlack PeopleEcuadorEnvironmental ExposureEnvironmental PollutantsEvolution, MolecularGene FrequencyGene-Environment InteractionGenetic MarkersGenotypeGlutathione TransferaseHumansIndians, South AmericanLinkage DisequilibriumMalePolymorphism, Single NucleotideSelection, GeneticConceptsGST genesPopulation demographic historyGlutatione S-transferasesAllele frequenciesEvolutionary forcesDemographic historyNatural selectionSelective pressureNull phenotypeNeutral polymorphismsPopulation relationshipsHapMap dataS-transferaseGST SNPsGST lociEnvironmental arsenicGenesWorldwide populationPCR-RFLP methodAfrican populationsPolymorphism