2020
Genetically-regulated transcriptomics & copy number variation of proctitis points to altered mitochondrial and DNA repair mechanisms in individuals of European ancestry
Pathak GA, Polimanti R, Silzer TK, Wendt FR, Chakraborty R, Phillips NR. Genetically-regulated transcriptomics & copy number variation of proctitis points to altered mitochondrial and DNA repair mechanisms in individuals of European ancestry. BMC Cancer 2020, 20: 954. PMID: 33008348, PMCID: PMC7530964, DOI: 10.1186/s12885-020-07457-1.Peer-Reviewed Original ResearchMeSH KeywordsAgedDNA Copy Number VariationsDNA RepairEuropeHumansMaleMiddle AgedMitochondriaProctitisTranscriptomeConceptsWhole blood tissuesCopy number variationsNumber variationsGene expressionGenome-Wide Human SNP Array 6.0Mitochondrial apoptosis regulationRNA-seq informationGenetic variantsDNA repair mechanismsGene expression changesDNA repair processesGene expression associationsGene expression profilesGene network informationDNA repair genesCopy number dataCopy number analysisGene OntologyApoptosis regulationDNA repairEnriched pathwaysEnriched processesOrganismal injuryTranscriptomic profilesExpression changes
2015
Explorative genetic association study of GSTT2B copy number variant in complex disease risks
Iorio A, Polimanti R, Calandro M, Graziano ME, Piacentini S, Bucossi S, Squitti R, Lazzarin N, Scano G, Limbruno GM, Manfellotto D, Fuciarelli M. Explorative genetic association study of GSTT2B copy number variant in complex disease risks. Annals Of Human Biology 2015, 43: 279-284. PMID: 26207597, DOI: 10.3109/03014460.2015.1049206.Peer-Reviewed Original ResearchConceptsOdds ratioAllergic rhinitisEssential hypertensionRecurrent miscarriageAlzheimer's diseaseCopy number variantsGlutathione S-transferaseCase-control groupPhase II enzymesStudy populationItalian patientsLarger sample sizeDisease statusDisease riskExogenous toxic compoundsPhase IPathological phenotypesDiseaseNumber variantsHealth-related phenotypesFurther investigationGenetic association studiesII enzymesComplex diseasesS-transferase
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 Pigmentation
2013
Phenotype versus Genotype Methods for Copy Number Variant Analysis of Glutathione S‐Transferases M1
Piacentini S, Polimanti R, De Angelis F, Iorio A, Fuciarelli M. Phenotype versus Genotype Methods for Copy Number Variant Analysis of Glutathione S‐Transferases M1. Annals Of Human Genetics 2013, 77: 409-415. PMID: 23731058, DOI: 10.1111/ahg.12025.Peer-Reviewed Original ResearchConceptsCopy number variantsGlutathione S-transferaseAnalysis of CNVsHuman populationCopy number variant analysisNumber variant analysisProtein functionSingle nucleotide polymorphismsGenetic association studiesGSTM1 copy number variantAssociation studiesCNV frequencyGenotype methodMissense substitutionsNumber variantsPhenotype analysisGenesNucleotide polymorphismsS-transferaseMissense variantsGenetic associationVariant analysisPhenotypeGSTM1 geneFunctional effects