First genome-wide association study on Alzheimer’s disease in the Argentinian and the Chilean populations

DALMASSO, MC; DE ROJAS, ITZIAR; OLIVAR, N; MUCHNIK, C; ANGEL, B; GOGLER, S; SANCHEZ AVALOS, MS; CHACON, MV; ARANGUIZ, R; ORELLANA, P; CUESTA, C; GALEANO, P; CAMPANELLI, L; NOVACK, G; MEDEL, N; LISSO, J; SEVILLANO, S; IRURETA, N; CASTAÑO, EM; MONTRREAL, LAURA; HEILMANN-HEIMBACH, S; MINTZ, I; VILLELLA, I; LAMBERT, J-C; SOLIS, P; POLITIS, DG; MANGONE, CA; ONZALEZ-BILLAULT, C; BOADA, MERCÉ; TARRAGA, L; SLACHEVSKY,, A; ALBALA, C; FUENTES, P; KOCHEN, S; BRUSCO, LI; RUIZ A; MORELLI, L; RAMIREZ, A

Amsterdam

Congreso; AAIC2023; 2023

Alzheimer's Association

Background: Genome-wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities.Method: We performed a GWAS on sporadic Alzheimer’s disease (AD) including 540 patients and 852 controls from Argentina and Chile. We explored the variants associated with AD in European GWAS from European Alzheimer’s and Dementia Biobank (EADB), and tested their genetic risk score (GRS) performance in this admixed population.Result: We detected APOE4 as single genome-wide significant signal (OR=2.93[2.37-3.63],p=2.6x10-23), and fifteen additional suggestive signals previously undetected. Nine of the 83 variants reported by EADB in Europeans were replicated, and the AD-GRS presented similar performance in this Latin population, despite the score diminishes when the Native American ancestry rises.Conclusion: We report the first GWAS on AD in a population from South America. It shows sharedgenetics that modulate AD risk between the European and the Latin American populations.