2018
Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits
Polimanti R, Kayser MH, Gelernter J. Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits. Genome Medicine 2018, 10: 24. PMID: 29580271, PMCID: PMC5870256, DOI: 10.1186/s13073-018-0532-7.Peer-Reviewed Original ResearchConceptsLocal adaptationPathogen diversityEuropean populationsBehavioral traitsGenome-wide investigationGenome-wide dataPolygenic risk score analysisProtozoan diversityWinter minimum temperaturesGenetic diversityEvolutionary mechanismsPositive selectionWidespread signalMolecular mechanismsTop findingsRisk score analysisDiversityTraitsCommon variationBehavioral phenotypesAdaptationGeneticsPopulationPhenotypeMechanism
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
Most 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 ResearchConceptsMost 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 originsGSTM1, 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 variants
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