Featured Publications
Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study
Friligkou E, Løkhammer S, Cabrera-Mendoza B, Shen J, He J, Deiana G, Zanoaga M, Asgel Z, Pilcher A, Di Lascio L, Makharashvili A, Koller D, Tylee D, Pathak G, Polimanti R. Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study. Nature Genetics 2024, 56: 2036-2045. PMID: 39294497, DOI: 10.1038/s41588-024-01908-2.Peer-Reviewed Original ResearchGenome-wide association studiesAnxiety disordersAssociation studiesMulti-ancestry genome-wide association studyPathogenesis of anxiety disordersHeritability of anxietyLocal genetic correlationProteome-wide analysisIndividuals of European descentAssociated with anxietyMulti-omics informationWidespread pleiotropyTranscriptome-widePolygenic risk scoresBipolar disorderAncestry-specificGene discoveryContinental groupsLimbic systemEast Asian groupsBiological insightsAnxietyEntorhinal cortexPhysical health domainBrain-specific
2024
Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
De Lillo A, Pathak G, Low A, De Angelis F, Abou Alaiwi S, Miller E, Fuciarelli M, Polimanti R. Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins. Human Genomics 2024, 18: 31. PMID: 38523305, PMCID: PMC10962184, DOI: 10.1186/s40246-024-00596-7.Peer-Reviewed Original ResearchConceptsCardiac congenital anomaliesAmyloidogenic mutationsCross-ancestry meta-analysisCongenital anomaliesComplex genotype-phenotype correlationsVal122Ile mutationGenotype-phenotype correlationPeripheral nerve disordersHereditary form of amyloidosisAncestry-specificCross-ancestryEuropean-descent individualsEast AsiansTTR-related amyloidosisIndividuals of African descentPopulation originClinical presentationAtrioventricular blockClinical spectrumDelayed diagnosisTTR mutationsAfrican descentNerve disordersTransthyretin mutationMutations