2024
Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
De Lillo A, Pathak G, Low A, De Angelis F, Abou Alaiwi S, Miller E, Fuciarelli M, Polimanti R. Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins. Human Genomics 2024, 18: 31. PMID: 38523305, PMCID: PMC10962184, DOI: 10.1186/s40246-024-00596-7.Peer-Reviewed Original ResearchConceptsCardiac congenital anomaliesAmyloidogenic mutationsCross-ancestry meta-analysisCongenital anomaliesComplex genotype-phenotype correlationsVal122Ile mutationGenotype-phenotype correlationPeripheral nerve disordersHereditary form of amyloidosisAncestry-specificCross-ancestryEuropean-descent individualsEast AsiansTTR-related amyloidosisIndividuals of African descentPopulation originClinical presentationAtrioventricular blockClinical spectrumDelayed diagnosisTTR mutationsAfrican descentNerve disordersTransthyretin mutationMutations
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
Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure
Polimanti R, Piacentini S, Iorio A, De Angelis F, Kozlov A, Novelletto A, Fuciarelli M. Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure. European Journal Of Human Genetics 2014, 23: 116-123. PMID: 24667780, PMCID: PMC4266733, DOI: 10.1038/ejhg.2014.47.Peer-Reviewed Original ResearchAllelesAmino Acid SequenceChromosomes, Human, Pair 22DNA Copy Number VariationsEnvironmentGene FrequencyGenetic Association StudiesGenetics, PopulationGenome-Wide Association StudyGenotypeHaplotypesHumansIntramolecular OxidoreductasesMacrophage Migration-Inhibitory FactorsModels, GeneticMolecular Sequence DataMultigene FamilyRisk FactorsSelection, GeneticSequence AlignmentSkin PigmentationHuman 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
2012
Genetic 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
2010
GSTT1 and GSTM1 gene polymorphisms in European and African populations
Piacentini S, Polimanti R, Porreca F, Martínez-Labarga C, De Stefano GF, Fuciarelli M. GSTT1 and GSTM1 gene polymorphisms in European and African populations. Molecular Biology Reports 2010, 38: 1225-1230. PMID: 20563854, DOI: 10.1007/s11033-010-0221-0.Peer-Reviewed Original ResearchConceptsGlutathione S-transferaseGene frequency distributionsAfrican populationsNucleotide substitutionsHuman diseasesSNP analysisAfrica originAllele-specific PCRGene deletionPCR analysisS-transferaseSpecific PCRMultiplex PCR analysisWorldwide populationAllelic frequenciesPharmacogenomic studiesGST variantsImportant insightsPolymorphismSuperfamilyPopulation sampleGSTM1 gene polymorphismsPhenotype frequenciesGene polymorphismsGenes