Featured Publications
Epidemiologic and Genetic Associations of Endometriosis With Depression, Anxiety, and Eating Disorders
Koller D, Pathak G, Wendt F, Tylee D, Levey D, Overstreet C, Gelernter J, Taylor H, Polimanti R. Epidemiologic and Genetic Associations of Endometriosis With Depression, Anxiety, and Eating Disorders. JAMA Network Open 2023, 6: e2251214. PMID: 36652249, PMCID: PMC9856929, DOI: 10.1001/jamanetworkopen.2022.51214.Peer-Reviewed Original ResearchConceptsPsychiatric comorbidityMAIN OUTCOMEMental healthIrritable bowel syndromeBody mass indexAssociation of endometriosisOdds of depressionSevere physical symptomsPain-related phenotypesWomen's mental healthMultivariate regression analysisOdds of endometriosisBowel syndromeGenetic associationMass indexGynecologic pathologyMillion Veteran ProgramEndometriosisPsychiatric disordersWomen's healthFemale controlsPleiotropic mechanismsPhysical symptomsComorbiditiesFinnGen studyAn Atlas of Genetic Correlations and Genetically Informed Associations Linking Psychiatric and Immune-Related Phenotypes
Tylee DS, Lee YK, Wendt FR, Pathak GA, Levey DF, De Angelis F, Gelernter J, Polimanti R. An Atlas of Genetic Correlations and Genetically Informed Associations Linking Psychiatric and Immune-Related Phenotypes. JAMA Psychiatry 2022, 79: 667-676. PMID: 35507366, PMCID: PMC9069342, DOI: 10.1001/jamapsychiatry.2022.0914.Peer-Reviewed Original ResearchConceptsRisk factorsImmune-related phenotypesMultivariable adjustmentUlcerative colitisCrohn's diseaseMendelian randomizationImmune-related disordersReciprocal risk factorsHealth-related behaviorsPsychiatric phenotypesFalse discovery rate correctionAllergic rhinitisGenetic association studiesGenetic associationInflammatory disordersClinical associationsMajor depressionImmune disordersMAIN OUTCOMEPsychiatric disordersSocial determinantsDisordersAssociation studiesColitisAsthma
2015
Nutritional habits, lifestyle, and genetic predisposition in cardiovascular and metabolic traits in Turkish population
Karaca S, Erge S, Cesuroglu T, Polimanti R. Nutritional habits, lifestyle, and genetic predisposition in cardiovascular and metabolic traits in Turkish population. Nutrition 2015, 32: 693-701. PMID: 26856649, DOI: 10.1016/j.nut.2015.12.027.Peer-Reviewed Original ResearchConceptsDietary habitsCausative relationshipGenetic predispositionTurkish populationDifferent cardiometabolic diseasesGenetic factorsCardiometabolic diseasesRisk factorsNutritional habitsDisease riskDifferent biological mechanismsMetabolic traitsSignificant correlationCausative networkGenetic variantsBiological mechanismsGenetic associationCMTPresent studyPredispositionLifestyleAnthropometric traitsHabitsPopulationFactors
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 genePhenotype versus Genotype Methods for Copy Number Variant Analysis of Glutathione S‐Transferases M1
Piacentini S, Polimanti R, De Angelis F, Iorio A, Fuciarelli M. Phenotype versus Genotype Methods for Copy Number Variant Analysis of Glutathione S‐Transferases M1. Annals Of Human Genetics 2013, 77: 409-415. PMID: 23731058, DOI: 10.1111/ahg.12025.Peer-Reviewed Original ResearchConceptsCopy number variantsGlutathione S-transferaseAnalysis of CNVsHuman populationCopy number variant analysisNumber variant analysisProtein functionSingle nucleotide polymorphismsGenetic association studiesGSTM1 copy number variantAssociation studiesCNV frequencyGenotype methodMissense substitutionsNumber variantsPhenotype analysisGenesNucleotide polymorphismsS-transferaseMissense variantsGenetic associationVariant analysisPhenotypeGSTM1 geneFunctional effects