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

DALMASSO, MARIA CAROLINA; DE ROJAS, ITZIAR; OLIVAR, NATIVIDAD; MUCHNIK, CAROLINA; ANGEL, BÁRBARA; GLOGER, SERGIO; SANCHEZ ABALOS, MARIANA SOLEDAD; CHACÓN, MARÍA VICTORIA; ARÁNGUIZ, RAFAEL; ORELLANA, PAULINA; CUESTA, CAROLINA; GALEANO, PABLO; CAMPANELLI, LORENZO; NOVACK, GISELA VANINA; MARTINEZ, LUIS EDUARDO; MEDEL, NANCY; LISSO, JULIETA; SEVILLANO, ZULMA; IRURETA, NICOLÁS; CASTAÑO, EDUARDO MIGUEL; MONTRREAL, LAURA; THOENES, MICHAELA; HANSES, CLAUDIA; HEILMANN?HEIMBACH, STEFANIE; KAIRIYAMA, CLAUDIA; MINTZ, INÉS; VILLELLA, IVANA; RUEDA, FABIANA; ROMERO, AMANDA; WUKITSEVITS, NANCY; QUIROGA, IVANA; GONA, CRISTIAN; LAMBERT, JEAN?CHARLES; SOLIS, PATRICIA; POLITIS, DANIEL GUSTAVO; MANGONE, CARLOS ALBERTO; GONZALEZ?BILLAULT, CHRISTIAN; BOADA, MERCÈ; TÀRRAGA, LLUÍS; SLACHEVSKY, ANDREA; ALBALA, CECILIA; FUENTES, PATRICIO; KOCHEN, SILVIA; BRUSCO, LUIS IGNACIO; RUIZ, AGUSTÍN; MORELLI, LAURA; RAMÍREZ, ALFREDO

ALZHEIMERS & DEMENTIA

ELSEVIER SCIENCE INC

Año: 2023

1552-5260

AbstractINTRODUCTION: Genome-wide association studies (GWAS) are fundamental foridentifying loci associated with diseases. However, they require replication in otherethnicities.METHODS: We performed GWAS on sporadic Alzheimer’s disease (AD) including 539patients and 854 controls from Argentina and Chile. We combined our results withthose from the European Alzheimer and Dementia Biobank (EADB) in a meta-analysisand tested their genetic risk score (GRS) performance in this admixed population.RESULTS: We detected apolipoprotein E ε4 as the single genome-wide significantsignal (odds ratio = 2.93 [2.37–3.63], P = 2.6 × 10−23). The meta-analysis withEADB summary statistics revealed four new loci reaching GWAS significance. Functional annotations of these loci implicated endosome/lysosomal function. Finally, the