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 origins
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 gene