2022
Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations
Koller D, Wendt F, Pathak G, De Lillo A, De Angelis F, Cabrera-Mendoza B, Tucci S, Polimanti R. Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations. BMC Biology 2022, 20: 249. PMID: 36344982, PMCID: PMC9641937, DOI: 10.1186/s12915-022-01449-2.Peer-Reviewed Original ResearchConceptsArchaic introgressionComplex traitsDenisovan introgressionNeanderthal allelesNeanderthal introgressionSignatures of admixtureAncestry groupsModern populationsPhenome-wide association studyModern human populationsMajor histocompatibility complex regionIntrogressionEvolutionary pressureGenetic poolDisease heritabilityGenomic signaturesEAS populationsExtinct NeanderthalsAssociation studiesMetabolic traitsDenisovansUK BiobankRed hair colorEuropean descentHuman traits
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
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