2023
A systems biology approach identifies the role of dysregulated PRDM6 in the development of hypertension
Gunawardhana K, Hong L, Rugira T, Uebbing S, Kucharczak J, Mehta S, Karunamuni D, Cabera-Mendoza B, Gandotra N, Scharfe C, Polimanti R, Noonan J, Mani A. A systems biology approach identifies the role of dysregulated PRDM6 in the development of hypertension. Journal Of Clinical Investigation 2023, 133: e160036. PMID: 36602864, PMCID: PMC9927944, DOI: 10.1172/jci160036.Peer-Reviewed Original ResearchConceptsDevelopment of hypertensionParallel reporter assaysRenin inhibitor aliskirenNeural crest-derived cellsRenin-producing cellsSystems biology approachRNA-seq analysisCell-specific disruptionCrest-derived cellsSmooth muscle cellsMuscle cell proteinsSystemic hypertensionBlood pressureWT miceAntihypertensive drugsBiology approachSuper enhancersFine mappingWT littermatesThird intronMultiple GWASCollagen depositionMouse aortaReporter assaysFate mapping
2014
Human 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
Lack of Association Between Essential Hypertension and GSTO1 Uncommon Genetic Variants in Italian Patients
Polimanti R, Piacentini S, Lazzarin N, Re MA, Manfellotto D, Fuciarelli M. Lack of Association Between Essential Hypertension and GSTO1 Uncommon Genetic Variants in Italian Patients. Genetic Testing And Molecular Biomarkers 2012, 16: 615-620. PMID: 22283150, DOI: 10.1089/gtmb.2011.0310.Peer-Reviewed Original ResearchConceptsEssential hypertensionLack of associationEH patientsUncommon variantEH riskUncommon genetic variantsGlutathione S-transferaseGenetic variantsMale patientsHealthy controlsItalian patientsPatientsCommon polymorphismsStatistical significance levelSignificant outcomesFunctional effectsHypertensionPotential roleHaplotype investigationGenetic association analysis
2011
Glutathione S-transferase variants as risk factor for essential hypertension in Italian patients
Polimanti R, Piacentini S, Lazzarin N, Re MA, Manfellotto D, Fuciarelli M. Glutathione S-transferase variants as risk factor for essential hypertension in Italian patients. Molecular And Cellular Biochemistry 2011, 357: 227-233. PMID: 21656129, DOI: 10.1007/s11010-011-0893-3.Peer-Reviewed Original ResearchConceptsEssential hypertensionArterial hypertensionGST null polymorphismsRisk of hypertensionBlood pressure regulationGSTT1 null individualsGST gene polymorphismsGlutathione S-transferase variantsSex-based analysisHypertensive patientsHypertensive subjectsNormotensive participantsFemale hypertensivesHealthy controlsRisk factorsPCR-RFLP methodHypertensionGST polymorphismsItalian patientsOral swabsGene polymorphismsNull polymorphismGSTO polymorphismsMale subjectsPossible association