Page 60 - Memora anual Fundación CIEN 2015
P. 60
comparison of the frequency of APOE allele ε4 ca- biomarkers associated with Alzheimer's disease.
rriers between CAFRS patients and 'Vallecas Project' In this sense, we are currently working on three diffe-
volunteers confirms the risk to suffer from Alzheimer's rent research projects based on the joint use of bio-
disease with an OR = 4.2 (p <0.01). Also, in order to chemical markers and genetic data to define
define different subpopulations of genetic risk, other endophenotypes. Specifically, funding has been ob-
possible genetic susceptibility genes have also been tained for the following research lines:
analyzed in a subset of participants (see below).
• Vascular dysfunction associated with
It is also important to emphasize that the samples ob- Alzheimer's disease (FIS project).
tained from Vallecas Project volunteers aged bet-
ween 70 and 85 years that include a comprehensive • Diagnosis of rapidly progressive dementia based
assessment of cognitive, sociological and neuroi- on biomarkers (EU Joint Programme –
maging state are optimal for its use as a control po- Neurodegenerative Disease Research).
pulation in various projects related to
neurodegenerative diseases, especially Alzheimer's • Development of diagnostic tools for Alzheimer's
disease. The monitoring for a period of 5 years will disease (R&D&i grant, INNPACTO program).
allow us to detect early, even before clinical
symptoms manifestation, susceptibility factors and • Epigenetic mechanisms involved in the etiology
and progression of rapidly progressive
neurodegenerative dementias (CIBERNED
cooperative project).
Distribution of genotypes of APOE gene Also during this year, CIEN Foundation has joined the
in the population of volunteers from the Dementia Genetics Spanish Consortium (DEGESCO),
in which several Spanish groups bring together ge-
'Vallecas Project' netic data for achieve greater power in genetic stu-
dies on dementia and especially Alzheimer's
Genotypes APOE disease. As a result of this collaboration, an interes-
ting study on the association of the MAPT H1 ha-
ε2/ε2 ε2/ε4 plotype gene APOE allele non-carriers ε4 has been
published.
ε4/ε4 4 9
12 1% Besides the study on the APOE gene, using samples
0% from the Vallecas Project (controls) and the Alzhei-
mer Project (AD cases), it have been conducted ge-
1% ε2/ε3 netic association studies of key AD-associated genes
including SORL1, LDLR, BIN1, CLU, ABCA7, CR1, PI-
109 CALM, BACE1 and PRNP. These association studies,
in addition to serving to reproduce in a Spanish po-
10% pulation studies conducted in other populations, en-
ε3/ε4 able us to determine the most important genetic
factors in the development of cognitive dysfunction
188 in our Vallecas Project cohort and define endophe-
notypes based on genetic variations and specific,
16% measurable features of patients and controls based
ε3/ε3
828
73%
CIEN Foundation Annual Report 2015 / 62
