2023
Sex differences in the polygenic architecture of hearing problems in adults
De Angelis F, Zeleznik O, Wendt F, Pathak G, Tylee D, De Lillo A, Koller D, Cabrera-Mendoza B, Clifford R, Maihofer A, Nievergelt C, Curhan G, Curhan S, Polimanti R. Sex differences in the polygenic architecture of hearing problems in adults. Genome Medicine 2023, 15: 36. PMID: 37165447, PMCID: PMC10173489, DOI: 10.1186/s13073-023-01186-3.Peer-Reviewed Original ResearchConceptsPolygenic architectureRisk lociGenome-wide investigationLarge-scale genetic studiesTranscriptomic regulationGWAS findingsTranscriptomic associationsGene interactionsPotential roleRegulation analysisGenetic studiesInference analysisMillion Veteran ProgramHealth Professionals FollowMolecular pathwaysPolygenic riskPreventive screening programsMultivariate interaction analysisNovel insightsCentral nervous systemEnvironmental risk factorsSex-stratified analysesSex-specific analysesSex differencesMental health outcomes
2018
Phenomic Impact of Genetically-Determined Euthyroid Function and Molecular Differences between Thyroid Disorders
Ravera S, Carrasco N, Gelernter J, Polimanti R. Phenomic Impact of Genetically-Determined Euthyroid Function and Molecular Differences between Thyroid Disorders. Journal Of Clinical Medicine 2018, 7: 296. PMID: 30248900, PMCID: PMC6210201, DOI: 10.3390/jcm7100296.Peer-Reviewed Original ResearchEuthyroid functionThyroid disordersMolecular differencesExchange factor activityGenome-wide dataMultiple testing correctionConsistent genetic correlationsFree thyroxine levelsTwo-sample Mendelian randomization studyBody fat distributionJAK/STATMendelian randomization studyPhenotypic traitsInter-individual variabilityPotential confoundersFat distributionFemale infertilityMolecular mechanismsThyroxine levelsImmune pathwaysMolecular pathwaysRandomization studyGenetic correlationsHyperthyroidismHypothyroidism
2017
ADH1B: From alcoholism, natural selection, and cancer to the human phenome
Polimanti R, Gelernter J. ADH1B: From alcoholism, natural selection, and cancer to the human phenome. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2017, 177: 113-125. PMID: 28349588, PMCID: PMC5617762, DOI: 10.1002/ajmg.b.32523.Peer-Reviewed Original ResearchConceptsHuman phenomeMultiple human tissuesPhenome-wide association studyMolecular functionsGene regulationPhenotypic traitsBioinformatics analysisEvolutionary dataFunctional allelesAssociation studiesMetabolic traitsAlcohol metabolismMolecular pathwaysMultiple molecular pathwaysHuman evolutionPhenomeGenesADH1B geneTraitsComplex mechanismsHuman tissuesMetabolismAllelesADH1BADH1B locus