S-076
Genome Wide Association Study of Sporadic Alzheimer’s disease in the new cohort GeNED.ar
Julio César Fernández Campuzano1, María Bárbara Postillone1, Pilar Freccero1, Mariana Nahir Vallejo Azar1, Juan Pablo Princich1, Giselle Mereles1, Patricia Solis1,2, Julieta Lisso1,2, Ines Mintz1,2, Nancy Medel1,2, Nicolas Irureta1,2, Cecilia Catanesi3,4, Nathalie Arnal3,5, Silvia Kochen1, Alfredo Ramirez 6, Paula Natalia González1, María Carolina Dalmasso1
  1. Estudios en Neurociencias y Sistemas Complejos (ENyS-CONICET-UNAJ-HEC)
  2. Clínica de la Memoria, Atención Médica Integral, Hospital SAMIC El Cruce (HEC)
  3. Facultad de Ciencias Naturales y Museo, Universidad Nacional de La Plata (UNLP)
  4. Instituto Multidisciplinario de Biología Celular (CONICET-CICPBA-UNLP)
  5. Instituto de Investigaciones Bioquímicas de La Plata (CONICET-UNLP)
  6. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University Hospital Cologne, Germany
Presenting Author:
Julio César Fernández Campuzano
jcf.campuzano@gmail.com
Sporadic Alzheimer’s disease (AD) is the most common form of dementia worldwide, with a genetic component accounting for 80%. To date, 83 SNPs across 75 loci have been identified in individuals of European ancestry. Some of these genetic signals were replicated in a population sample from Argentina (N=1028) and Chile (N=352) by Genome-wide Association Study (GWAS). These GWAS also revealed 15 novel variants with suggestive significance, not reported in Europeans or linked to AD before. With the aim to increase statistical power to validate these potential Latin American signals, we run a new GWAS using the GeNED.ar cohort (Genetics and Neuroimaging of Aging and Dementia in Argentina) with 300 additional samples (88 AD and 212 controls). Samples were genotyped in Germany using the Illumina GSA array. The quality control excluded samples and variants with missingness higher than 3%, excess of heterozygosity rate, sex discrepancies, duplicates, and relatedness (PI-HAT > 0.1875). After QC, 280 samples remained (80 AD and 200 controls). Data were imputed with minimac4 and the TOPMed reference panel via the Michigan Imputation Server. Ancestry analysis revealed an admixture between Indigenous American and European components. Principal components–adjusted logistic regression and meta-analysis with previous results will shed light to better understand the genetic architecture of AD in our admixed population.