First GWAS on Alzheimer's Disease in Argentina and Chile populations

Abstract

INTRODUCTION, Genome-wide association studies (GWAS) are fundamental foridentifying loci associated with diseases. However, they require replication in otherethnicities.METHODS, we performed a GWAS on sporadic Alzheimer’s disease (AD) including 540patients and 852 controls from Argentina and Chile. We explored the variants associatedwith AD in European GWAS from European Alzheimer’s and Dementia Biobank (EADB)and tested their genetic risk score (GRS) performance in this admixed population.RESULTS, 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. Nineof the 83 variants reported by EADB in Europeans were replicated, and the AD-GRSpresented similar performance in this Latin population, despite the score diminishes whenthe Native American ancestry rises.DISCUSSION, we report the first GWAS on AD in a population from South America. Itshows shared genetics that modulate AD risk between the European and the LatinAmerican populations.