2020
Leveraging genome-wide data to investigate differences between opioid use vs. opioid dependence in 41,176 individuals from the Psychiatric Genomics Consortium
Polimanti R, Walters RK, Johnson EC, McClintick JN, Adkins AE, Adkins DE, Bacanu SA, Bierut LJ, Bigdeli TB, Brown S, Bucholz KK, Copeland WE, Costello EJ, Degenhardt L, Farrer LA, Foroud TM, Fox L, Goate AM, Grucza R, Hack LM, Hancock DB, Hartz SM, Heath AC, Hewitt JK, Hopfer CJ, Johnson EO, Kendler KS, Kranzler HR, Krauter K, Lai D, Madden PAF, Martin NG, Maes HH, Nelson EC, Peterson RE, Porjesz B, Riley BP, Saccone N, Stallings M, Wall TL, Webb BT, Wetherill L, Edenberg H, Agrawal A, Gelernter J. Leveraging genome-wide data to investigate differences between opioid use vs. opioid dependence in 41,176 individuals from the Psychiatric Genomics Consortium. Molecular Psychiatry 2020, 25: 1673-1687. PMID: 32099098, PMCID: PMC7392789, DOI: 10.1038/s41380-020-0677-9.Peer-Reviewed Original Research
2017
Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression
Zhou H, Polimanti R, Yang BZ, Wang Q, Han S, Sherva R, Nuñez YZ, Zhao H, Farrer LA, Kranzler HR, Gelernter J. Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. JAMA Psychiatry 2017, 74: 1234-1241. PMID: 29071344, PMCID: PMC6331050, DOI: 10.1001/jamapsychiatry.2017.3275.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismBlack or African AmericanComorbidityDepressive Disorder, MajorDiagnostic and Statistical Manual of Mental DisordersFemaleGenetic Predisposition to DiseaseGenetic VariationHumansMaleMiddle AgedMultifactorial InheritanceOrgan SizePutamenSemaphorin-3AUnited StatesWhite PeopleConceptsGenome-wide association studiesGenetic risk variantsNeuropsychiatric traitsAssociation studiesRisk variantsPolygenic risk allelesPolygenic risk scoresGenetic mechanismsGenetic basisAmerican data setMolecular natureTraitsCriterion countsGenetic causePossible genetic causesMD comorbidityRisk allelesComorbid alcohol dependenceGenetically determined schizophrenia is not associated with impaired glucose homeostasis
Polimanti R, Gelernter J, Stein DJ. Genetically determined schizophrenia is not associated with impaired glucose homeostasis. Schizophrenia Research 2017, 195: 286-289. PMID: 29092750, PMCID: PMC5924728, DOI: 10.1016/j.schres.2017.10.033.Peer-Reviewed Original Research
2016
Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations
Karaca S, Karaca M, Civelek E, Ozgul RK, Sekerel BE, Polimanti R. Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations. Gene 2016, 587: 132-136. PMID: 27129937, DOI: 10.1016/j.gene.2016.04.050.Peer-Reviewed Original Research
2015
Dissecting ancestry genomic background in substance dependence genome-wide association studies
Polimanti R, Yang C, Zhao H, Gelernter J. Dissecting ancestry genomic background in substance dependence genome-wide association studies. Pharmacogenomics 2015, 16: 1487-1498. PMID: 26267224, PMCID: PMC4632979, DOI: 10.2217/pgs.15.91.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAlgorithmsAllelesBlack or African AmericanGene FrequencyGene-Environment InteractionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHaplotypesHumansMolecular Sequence AnnotationOpioid-Related DisordersSubstance-Related DisordersTobacco Use DisorderWhite PeopleConceptsGenome-wide association studiesGenomic backgroundFunctional allelesAssociation studiesCommon functional allelesWide association studyLocal haplotype structureGenetic lociSD traitHaplotype structureRelevant genesGenesLociInteractive partnersPopulation diversityHigh frequency differencesAllelesFrequency differenceGenomeTraitsDiversityRoleVariantsGenetic 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
GSTM1, GSTP1, and GSTT1 genetic variability in Turkish and worldwide populations
Karaca S, Karaca M, Cesuroglu T, Erge S, Polimanti R. GSTM1, GSTP1, and GSTT1 genetic variability in Turkish and worldwide populations. American Journal Of Human Biology 2014, 27: 310-316. PMID: 25515186, DOI: 10.1002/ajhb.22671.Peer-Reviewed Original ResearchConceptsHuman Genome Diversity ProjectGenetic association studiesSequence variationAssociation studiesFunctional variantsHigh linkage disequilibriumFuture genetic association studiesWorldwide populationCommon functional variantsGenetic diversityGenetic variabilityGenome ProjectOxidative stress-related diseasesGST genesLinkage disequilibriumEastern populationsDiversity ProjectGSTP1 functionStress-related diseasesStudy of diseasesGenetic polymorphismsSequenom MassARRAY platformPolymorphismVariantsGlutathione S-transferase variantsMost recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation
Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto L, Mauro A, Manfellotto D, Fuciarelli M, Polimanti R. Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation. Amyloid 2014, 22: 73-78. PMID: 25510352, DOI: 10.3109/13506129.2014.994597.Peer-Reviewed Original ResearchMeSH KeywordsAmyloidosisGenetic Association StudiesGenetic VariationHaplotypesHumansMutationPortugalPrealbuminSwedenConceptsMost recent common ancestorNon-coding regionsRecent common ancestorAge of originPhenotypic heterogeneityGenetic diversityCommon ancestorPhenotypic variationIndependent originsGenetic evidenceMultiple founder mutationsMicrosatellite markersGenetic analysisGenetic relationshipsGenotype-phenotype correlationAmyloidogenic TTR mutationsPhenotypic variabilityMutationsHuman populationWorldwide distributionPotential roleTTR geneAutosomal transmissionFounder mutationDifferent originsGSTO1 uncommon genetic variants are associated with recurrent miscarriage risk
Polimanti R, Graziano ME, Lazzarin N, Vaquero E, Manfellotto D, Fuciarelli M. GSTO1 uncommon genetic variants are associated with recurrent miscarriage risk. Fertility And Sterility 2014, 101: 735-739. PMID: 24417908, DOI: 10.1016/j.fertnstert.2013.12.010.Peer-Reviewed Original ResearchConceptsRecurrent miscarriageUncommon genetic variantsGSTO1 geneRecurrent miscarriage riskGenetic variantsPhysiologic pregnancyPregnancy complicationsRisk factorsMiscarriage riskMAIN OUTCOMERM riskSignificant associationSingle nucleotide polymorphismsWomenK variantGenetic association studiesGSTO1Nucleotide polymorphismsRiskAssociation studiesDetoxification metabolismComplicationsPregnancyMiscarriagePathogenesis
2013
Functional 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 differencesGenetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems
Polimanti R, Carboni C, Baesso I, Piacentini S, Iorio A, De Stefano GF, Fuciarelli M. Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems. Gene 2012, 512: 102-107. PMID: 23043933, DOI: 10.1016/j.gene.2012.09.113.Peer-Reviewed Original ResearchMeSH KeywordsAllelesEthnicityGene FrequencyGenetic VariationGenetics, PopulationGenotypeGlutathione TransferaseHumansConceptsGenetic association studiesGenetic variabilityAssociation studiesHuman populationFunctional genetic differencesDetoxification genesGlutathione S-transferaseCellular detoxificationEnzymatic functionGlutathione S-transferase enzymesGST genesBiological processesGenetic differencesDetoxification systemGenesGST enzymesS-transferaseFunctional impactLoF variantsFunction variantsGSTEnzymeHapMap databaseGenetic polymorphismsKey role
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
2010
GSTA1, GSTO1 and GSTO2 gene polymorphisms in Italian asthma patients
Polimanti R, Piacentini S, Moscatelli B, Pellicciotti L, Manfellotto D, Fuciarelli M. GSTA1, GSTO1 and GSTO2 gene polymorphisms in Italian asthma patients. Clinical And Experimental Pharmacology And Physiology 2010, 37: 870-872. PMID: 20374258, DOI: 10.1111/j.1440-1681.2010.05385.x.Peer-Reviewed Original ResearchConceptsRisk of asthmaGSTO2 gene polymorphismsGene polymorphismsPolymerase chain reaction-restriction fragment length polymorphismReaction-restriction fragment length polymorphismTwo-pair primer (PCR-CTPP) methodGSTA1 genotypeAsthma patientsAsthmaEpidemiological studiesGlutathione S-transferase enzymesT genotypeControl groupPotential associationAsthmaticsGSTA1Primer methodGenetic alterationsGSTO2 genesFragment length polymorphismRiskPresent studyGSTO1PolymorphismAssociation