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
2021
Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank
De Lillo A, D'Antona S, Pathak GA, Wendt FR, De Angelis F, Fuciarelli M, Polimanti R. Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank. Human Molecular Genetics 2021, 30: 1457-1467. PMID: 33890984, PMCID: PMC8283210, DOI: 10.1093/hmg/ddab114.Peer-Reviewed Original ResearchConceptsGWS associationsHeterogeneous lociGenome-wide association studiesEuropean populationsAncestry-specific effectsAllele frequenciesWide significant associationsPhenome-wide analysisAncestry groupsComplex traitsLD variationPhenotypic classesAssociation studiesUK BiobankMapping variantsLociConcordant effectsCentral/South AsianAncestryWorldwide populationTraitsAsian ancestryDiscordant effectsSouth Asian ancestryEuropean descent