2022
A MUC5B Gene Polymorphism, rs35705950-T, Confers Protective Effects Against COVID-19 Hospitalization but Not Severe Disease or Mortality
Verma A, Minnier J, Wan ES, Huffman JE, Gao L, Joseph J, Ho YL, Wu WC, Cho K, Gorman BR, Rajeevan N, Pyarajan S, Garcon H, Meigs JB, Sun YV, Reaven PD, McGeary JE, Suzuki A, Gelernter J, Lynch JA, Petersen JM, Zekavat SM, Natarajan P, Dalal S, Jhala DN, Arjomandi M, Gatsby E, Lynch KE, Bonomo RA, Freiberg M, Pathak GA, Zhou JJ, Donskey CJ, Madduri RK, Wells QS, Huang R, Polimanti R, Chang KM, Liao KP, Tsao PS, Wilson PWF, Hung A, O’Donnell C, Gaziano JM, Hauger RL, Iyengar S, Luoh SW, Initiative T. A MUC5B Gene Polymorphism, rs35705950-T, Confers Protective Effects Against COVID-19 Hospitalization but Not Severe Disease or Mortality. American Journal Of Respiratory And Critical Care Medicine 2022, 206: 1220-1229. PMID: 35771531, PMCID: PMC9746845, DOI: 10.1164/rccm.202109-2166oc.Peer-Reviewed Original ResearchMeSH KeywordsCOVID-19Genetic Predisposition to DiseaseGenotypeHospitalizationHumansIdiopathic Pulmonary FibrosisMucin-5BPolymorphism, GeneticConceptsCOVID-19 hospitalizationIdiopathic pulmonary fibrosisMillion Veteran ProgramHost Genetics InitiativeAcute respiratory syndrome coronavirus 2 infectionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infectionGene polymorphismsSyndrome coronavirus 2 infectionCoronavirus 2 infectionConfer protective effectsCOVID-19 positivityCoronavirus disease (COVID-19) infectionElectronic health recordsMVP subjectsPneumonia eventsClinical outcomesPulmonary fibrosisCOVID-19 Host Genetics InitiativeClinical eventsSevere outcomesProtective effectSevere diseaseRs35705950Disease severityMVP participants
2018
Effect of the GSTM1 gene deletion on glycemic variability, sympatho-vagal balance and arterial stiffness in patients with metabolic syndrome, but without diabetes
Iorio A, Ylli D, Polimanti R, Picconi F, Maggio P, Francomano D, Aversa A, Manfellotto D, Fuciarelli M, Frontoni S. Effect of the GSTM1 gene deletion on glycemic variability, sympatho-vagal balance and arterial stiffness in patients with metabolic syndrome, but without diabetes. Diabetes Research And Clinical Practice 2018, 138: 158-168. PMID: 29452132, DOI: 10.1016/j.diabres.2018.02.006.Peer-Reviewed Original ResearchConceptsProtein kinase regulationGlutathione S-transferase geneCellular detoxification processesKinase regulationInvolvement of GSTRisk lociFunctional variantsGene deletionPutative roleDetoxification processDeletionGenesPolymorphism analysisOxidative stressCrucial roleGene polymorphism analysisGST gene polymorphismsNovel findingsGSTM1 gene deletionLociGSTM1 deletionRoleGSTRegulationPathway
2014
Functional variability of glutathione S‐transferases in basque populations
Iorio A, Piacentini S, Polimanti R, De Angelis F, Calderon R, Fuciarelli M. Functional variability of glutathione S‐transferases in basque populations. American Journal Of Human Biology 2014, 26: 361-366. PMID: 24677736, DOI: 10.1002/ajhb.22520.Peer-Reviewed Original ResearchMeSH KeywordsEthnicityGlutathione TransferaseHumansMultiplex Polymerase Chain ReactionPolymorphism, GeneticPolymorphism, Restriction Fragment LengthSpainConceptsHuman Genome Diversity ProjectGlutathione S-transferaseS-transferaseFunctional variabilityGenetic structureGenetic association studiesCellular detoxificationGenetic variabilityGenome ProjectGST genesAssociation studiesHigh differentiationDiversity ProjectMediterranean populationsGenesCorrespondence analysisBasque populationEnzyme activityHuman populationDNA extractionPCR multiplexWorldwide populationPCR-RFLP methodPolymorphic variantsDrug response
2013
Functional diversity of the glutathione peroxidase gene family among human populations: implications for genetic predisposition to disease and drug response
Polimanti R, Fuciarelli M, Destro-Bisol G, Battaggia C. Functional diversity of the glutathione peroxidase gene family among human populations: implications for genetic predisposition to disease and drug response. Pharmacogenomics 2013, 14: 1037-1045. PMID: 23837478, DOI: 10.2217/pgs.13.99.Peer-Reviewed Original ResearchConceptsGlutathione peroxidase gene familyPeroxidase gene familyHuman genetic variationFunctional prediction analysisHigh functional impactHuman populationGenomes Project dataGene familyFunctional diversityRedox regulationGenetic variationDrug responseFunctional differencesFunctional impactAdaptation signalsCommon variantsDiverse responsesGlutathione peroxidaseRare variantsGPX3GPX1Prediction analysisVariantsDiverse susceptibilityDiversity
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 ResearchMeSH KeywordsFemaleGene FrequencyGenotypeGlutathione TransferaseHaplotypesHumansHypertensionItalyMaleMiddle AgedPolymorphism, GeneticSex FactorsWhite PeopleConceptsEssential hypertensionLack of associationEH patientsUncommon variantEH riskUncommon genetic variantsGlutathione S-transferaseGenetic variantsMale patientsHealthy controlsItalian patientsPatientsCommon polymorphismsStatistical significance levelSignificant outcomesFunctional effectsHypertensionPotential roleHaplotype investigationGenetic association analysisLack of association between GSTM1, GSTP1, and GSTT1 gene polymorphisms and asthma in adult patients from Rome, central Italy.
Piacentini S, Polimanti R, Moscatelli B, Re MA, Manfellotto D, Fuciarelli M. Lack of association between GSTM1, GSTP1, and GSTT1 gene polymorphisms and asthma in adult patients from Rome, central Italy. Journal Of Investigational Allergology And Clinical Immunology 2012, 22: 252-6. PMID: 22812193.Peer-Reviewed Original ResearchConceptsDevelopment of asthmaAsthma developmentPolymerase chain reactionGSTP1 polymorphismsGlutathione S-transferaseGene polymorphismsOxidative stressGST gene polymorphismsLack of associationGSTT1 gene polymorphismsComplex multifactorial diseasePCR-restriction fragment length polymorphism analysisAsthmatic patientsAdult patientsAsthma pathogenesisInflammatory responseAsthma riskGST polymorphismsAsthmaMultiplex polymerase chain reactionHealthy individualsAntioxidant defense systemGSTT1 genesMultifactorial diseaseUnrelated healthy individuals
2011
Functional polymorphisms of GSTA1 and GSTO2 genes associated with asthma in Italian children
Piacentini S, Verrotti A, Polimanti R, Giannini C, Saccucci P, Manfellotto D, Fuciarelli M. Functional polymorphisms of GSTA1 and GSTO2 genes associated with asthma in Italian children. Clinical Chemistry And Laboratory Medicine 2011, 50: 311-315. PMID: 22040239, DOI: 10.1515/cclm.2011.774.Peer-Reviewed Original ResearchMeSH KeywordsAsthmaChildFemaleGenetic Predisposition to DiseaseGlutathione TransferaseHumansItalyMalePolymorphism, GeneticConceptsGlutathione S-transferaseAsthma developmentGSTO2 gene polymorphismsSingle nucleotide polymorphismsGenetic variabilityAssociation studiesCellular protectionAntioxidant defense systemGSTO2 genesGSTT1 genotype distributionFunctional polymorphismsNucleotide polymorphismsPathogenesis of asthmaS-transferaseCase-control studyIndependent case-control studiesSusceptible genesDefense systemGSTT1 null genotypeEffect of GSTM1GenesBronchial inflammationGSTA1GSTO2Airway disorders
2010
GSTT1 and GSTM1 gene polymorphisms in European and African populations
Piacentini S, Polimanti R, Porreca F, Martínez-Labarga C, De Stefano GF, Fuciarelli M. GSTT1 and GSTM1 gene polymorphisms in European and African populations. Molecular Biology Reports 2010, 38: 1225-1230. PMID: 20563854, DOI: 10.1007/s11033-010-0221-0.Peer-Reviewed Original ResearchConceptsGlutathione S-transferaseGene frequency distributionsAfrican populationsNucleotide substitutionsHuman diseasesSNP analysisAfrica originAllele-specific PCRGene deletionPCR analysisS-transferaseSpecific PCRMultiplex PCR analysisWorldwide populationAllelic frequenciesPharmacogenomic studiesGST variantsImportant insightsPolymorphismSuperfamilyPopulation sampleGSTM1 gene polymorphismsPhenotype frequenciesGene polymorphismsGenesGlutathione S-transferase Omega class (GSTO) polymorphisms in a sample from Rome (Central Italy)
Polimanti R, Piacentini S, Porreca F, Fuciarelli M. Glutathione S-transferase Omega class (GSTO) polymorphisms in a sample from Rome (Central Italy). Annals Of Human Biology 2010, 37: 585-592. PMID: 20113212, DOI: 10.3109/03014460903508520.Peer-Reviewed Original Research