Page 64 - Annual Report 2018

ted towards the definition of new genetic risk factors ning endophenotypes based on genetic variations
and the participation of the national consortium in as well as concrete and measurable characteristics
international proposals. of the patients and controls based on clinical neu-
roimaging, biochemical or pathological measure-
In addition to the study of the APOE gene, using ments (see below)
samples from the Vallecas Project (controls) and
samples from the Alzheimer Project (AD cases), ge- An European DNA bank for deciphering the missing
netic association studies of the main genes associa- heritability of Alzheimer’s disease - EADB
ted with AD have been carried out, including SORL1, (European AD DNA Bank)
LDLR, BIN1, CLU, ABCA7, CR1, PICALM, BACE1 and and GR@ACE project
PRNP. These association studies, in addition to ser- (Genomic Research at Fundació ACE)
ving as a replication in a Spanish population of stu-
dies carried out in other populations, will allow us to This project is an international collaboration initiative
determine the most important genetic factors in the carried out through DEGESCO that aims at signifi-
development of cognitive dysfunction in our popu- cantly increasing the generation of data based on
lation of the Vallecas Project. It will also allow defi- GWAS (Genome-Wide Association Studies), through

Illustration of the concept of endophenotypes for defining homogenous populations
based on certain genetic variants and biomarkers in Alzheimer's disease (modified
from During et al. 2011)

The construct of Diagnostic or
endophenotype predictive marker

Epigenetics
AD -related
Exploration of Abnormalities Prediction
Genes AD
risk factors in cognitively of the disease dementia
normal subjects
Environment

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