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The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease

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dc.contributor.authorDalmasso, Maria
dc.contributor.authorDe Rojas, Itziar
dc.contributor.authorOlivar, Natividad
dc.contributor.authorMuchnik, Carolina
dc.contributor.authorAngel, Bárbara
dc.contributor.authorGloger, Sergio
dc.contributor.authorSanchez, Mariana
dc.contributor.authorChacón, María
dc.contributor.authorAránguiz, Rafael
dc.contributor.authorOrellana, Paulina
dc.contributor.authorCuesta, Carolina
dc.contributor.authorGaleano, Pablo
dc.contributor.authorCampanelli, Lorenzo
dc.contributor.authorNovack, Gisela
dc.contributor.authorMartinez, Luis
dc.contributor.authorMedel, Nancy
dc.contributor.authorLisso, Julieta
dc.contributor.authorSevillano, Zulma
dc.contributor.authorIrureta, Nicolás
dc.contributor.authorCastaño, Eduardo
dc.contributor.authorMontrreal, Laura
dc.contributor.authorThoenes, Michaela
dc.contributor.authorHanses, Claudia
dc.contributor.authorHeilmann-Heimbach, Stefanie
dc.contributor.authorKairiyama, Claudia
dc.contributor.authorMintz, Inés
dc.contributor.authorVillella, Ivana
dc.contributor.authorRueda, Fabiana
dc.contributor.authorRomero, Amanda
dc.contributor.authorWukitsevits, Nancy
dc.contributor.authorQuiroga, Ivana
dc.contributor.authorGona, Cristian
dc.contributor.authorLamber, Jean-Charles
dc.contributor.authorSolis, Patricia
dc.contributor.authorPolitis, Daniel
dc.contributor.authorMangone, Carlos
dc.contributor.authorGonzalez, Christian
dc.contributor.authorBoada, Mercè
dc.contributor.authorTàrraga, Lluís
dc.contributor.authorSlachevsky Chonchol, Andrea
dc.date.accessioned2024-04-17T21:09:23Z
dc.date.available2024-04-17T21:09:23Z
dc.date.issued2024
dc.descriptionAlbala, Cecilia; Fuentes, Patricio; Kochen, Silvia; Brusco, Luis; Ruiz, Agustín; Morelli, Laura; Ramírez, Alfredo
dc.description.abstractIntroduction: Genome-wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities. Methods: We performed GWAS on sporadic Alzheimer's disease (AD) including 539 patients and 854 controls from Argentina and Chile. We combined our results with those from the European Alzheimer and Dementia Biobank (EADB) in a meta-analysis and tested their genetic risk score (GRS) performance in this admixed population. Results: We detected apolipoprotein E ε4 as the single genome-wide significant signal (odds ratio = 2.93 [2.37-3.63], P = 2.6 × 10-23 ). The meta-analysis with EADB summary statistics revealed four new loci reaching GWAS significance. Functional annotations of these loci implicated endosome/lysosomal function. Finally, the AD-GRS presented a similar performance in these populations, despite the score diminished when the Native American ancestry rose. Discussion: We report the first GWAS on AD in a population from South America. It shows shared genetics modulating AD risk between the European and these admixed populations. Highlights: This is the first genome-wide association study on Alzheimer's disease (AD) in a population sample from Argentina and Chile. Trans-ethnic meta-analysis reveals four new loci involving lysosomal function in AD. This is the first independent replication for TREM2L, IGH-gene-cluster, and ADAM17 loci. A genetic risk score (GRS) developed in Europeans performed well in this population. The higher the Native American ancestry the lower the GRS values
dc.description.versionAceptada
dc.identifier.citationDalmasso MC, de Rojas I, Olivar N, Muchnik C, Angel B, Gloger S, Sanchez Abalos MS, Chacón MV, Aránguiz R, Orellana P, Cuesta C, Galeano P, Campanelli L, Novack GV, Martinez LE, Medel N, Lisso J, Sevillano Z, Irureta N, Castaño EM, Montrreal L, Thoenes M, Hanses C, Heilmann-Heimbach S, Kairiyama C, Mintz I, Villella I, Rueda F, Romero A, Wukitsevits N, Quiroga I, Gona C, Lambert JC, Solis P, Politis DG, Mangone CA, Gonzalez-Billault C, Boada M, Tàrraga L, Slachevsky A, Albala C, Fuentes P, Kochen S, Brusco LI, Ruiz A, Morelli L, Ramírez A. The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease. Alzheimers Dement. 2024 Feb;20(2):1298-1308. doi: 10.1002/alz.13522
dc.identifier.doihttps://doi.org/10.1002/alz.13522
dc.identifier.urihttps://hdl.handle.net/11447/8647
dc.language.isoen
dc.subjectHispanic
dc.subjectLatin America
dc.subjectNative-American ancestry
dc.subjectSouth America
dc.subjectAdmixture
dc.subjectGenetic risk score
dc.subjectGenetics
dc.subjectGenome-wide association study
dc.titleThe first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceAlzheimer's & dementia : the journal of the Alzheimer's Association
dspace.entity.typePublication
relation.isAuthorOfPublicatione25c3d3e-63b5-4e04-951a-12a4989aa772
relation.isAuthorOfPublication.latestForDiscoverye25c3d3e-63b5-4e04-951a-12a4989aa772

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