2014
Deletion polymorphism of GSTT1 gene as protective marker for allergic rhinitis
Iorio A, Polimanti R, Piacentini S, Liumbruno GM, Manfellotto D, Fuciarelli M. Deletion polymorphism of GSTT1 gene as protective marker for allergic rhinitis. The Clinical Respiratory Journal 2014, 9: 481-486. PMID: 24902621, DOI: 10.1111/crj.12170.Peer-Reviewed Original ResearchConceptsGlutathione S-transferaseObserved genetic associationAllergic rhinitisGene familyGenomic DNASusceptibility lociXenobiotic compoundsGenesPhase II enzymesS-transferaseCase-control populationII enzymesOxidative stress-related mechanismsComplex diseasesGenetic associationNull polymorphismHealthy non-allergic subjectsHuman populationStress-related mechanismsDeletion polymorphismNon-allergic subjectsCommon respiratory diseasesBiomarkers of inflammationPolymorphismOxidative stress
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