2014
GSTM1, 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
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 geneLinkage Disequilibrium and Haplotype Analysis of the ATP7B Gene in Alzheimer's Disease
Squitti R, Polimanti R, Bucossi S, Ventriglia M, Mariani S, Manfellotto D, Vernieri F, Cassetta E, Ursini F, Rossini PM. Linkage Disequilibrium and Haplotype Analysis of the ATP7B Gene in Alzheimer's Disease. Rejuvenation Research 2013, 16: 3-10. PMID: 22950421, PMCID: PMC3582274, DOI: 10.1089/rej.2012.1357.Peer-Reviewed Original ResearchConceptsCopper-binding domainSingle nucleotide polymorphismsInformative single nucleotide polymorphismsAssociation studiesLD blocksRole of ATP7BWide association studyLinkage disequilibrium analysisGenetic structureVariants/haplotypesGenetic association analysisTransmembrane domainSignificant lociGene sequencesGenetic association studiesATP7B geneGene regionAssociation analysisGenesDisequilibrium analysisLinkage disequilibriumNovel insightsCopper dyshomeostasisStrong LDMultiple testing correction