2024
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction
Braun A, Shekhar S, Levey D, Straub P, Kraft J, Panagiotaropoulou G, Heilbron K, Awasthi S, Meleka Hanna R, Hoffmann S, Stein M, Lehnerer S, Mergenthaler P, Elnahas A, Topaloudi A, Koromina M, Palviainen T, Asbjornsdottir B, Stefansson H, Skuladóttir A, Jónsdóttir I, Stefansson K, Reis K, Esko T, Palotie A, Leypoldt F, Stein M, Fontanillas P, Kaprio J, Gelernter J, Davis L, Paschou P, Tannemaat M, Verschuuren J, Kuhlenbäumer G, Gregersen P, Huijbers M, Stascheit F, Meisel A, Ripke S. Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction. Nature Communications 2024, 15: 9839. PMID: 39537604, PMCID: PMC11560923, DOI: 10.1038/s41467-024-53595-6.Peer-Reviewed Original ResearchConceptsPerformance of polygenic risk scoresGenome-wide significant hitsGenome-wide association studiesGenome-Wide Meta-AnalysisControls of European ancestryGenetic architecturePolygenic risk scoresSignificant hitsAssociation studiesPhenotypic variationPolygenic predictionEuropean ancestryAssociated with early-onsetHuman leukocyte antigen allelesLociEarly-onsetReplication studyNeuromuscular junctionMyasthenia gravisAutoantibody-mediated diseasesAntigen allelesAllelesAncestryDisease manifestationsLate-onset MG
2014
Polymorphisms within ASTN2 gene are associated with age at onset of Alzheimer’s disease
Wang KS, Tonarelli S, Luo X, Wang L, Su B, Zuo L, Mao C, Rubin L, Briones D, Xu C. Polymorphisms within ASTN2 gene are associated with age at onset of Alzheimer’s disease. Journal Of Neural Transmission 2014, 122: 701-708. PMID: 25410587, DOI: 10.1007/s00702-014-1306-z.Peer-Reviewed Original ResearchConceptsAstrotactin 2AAO of ADASTN2 geneGenome-wide association analysisSingle nucleotide polymorphism panelFuture functional studiesGenetic architectureSignificant hitsAssociation analysisGenesFunctional studiesGenetic variantsAlzheimer's diseasePathogenesis of ADGenetic profileSNPsKaplan-Meier survival analysisGenetic factorsGenotypesAD interventionAD patientsNeurological conditionsAG genotypeCognitive disordersAA genotype
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