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Start Over Author "Tárraga A" Journal alzheimer's & dementia: the journal of the alzheimer's association
90 results on '"Tárraga A"'

1. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

Author

Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Corbatón, A., de Rojas, I., Diego, S., Espinosa, A., Gailhajenet, A., García González, P., Gil, S., Guitart, M., González Pérez, A., Hernández, I., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M.T., Marquié, M., Mauleón, A., Monté-Rubio, G., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejà, E., Pérez-Cordon, A., Pineda, J.A., Preckler, S., Quintela, I., Real, L.M., Rodríguez-Gómez, O., Rosende-Roca, M., Ruiz, A., Ruiz, S., Sáez, M.E., Sanabria, A., Santos-Santos, M.A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A.D., Alarcón-Martín, E., Álvarez, I., Álvarez, V., Amer-Ferrer, Goo, Antequera, M., Antúnez, C., Baquero, M., Bernal, M., Blesa, R., Buiza-Rueda, D., Bullido, M.J., Burguera, J.A., Calero, M., Carrillo, F., Carrión-Claro, M., Casajeros, M.J., Clarimón, J., Cruz-Gamero, J.M., de Pancorbo, M.M., del Ser, T., Diez-Fairen, M., Fortea, J., Franco, E., Frank-García, A., García-Alberca, J.M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Espinosa, Labrador, Lage, C., Legaz, A., Lleó, A., López de Munáin, A., López-García, S., Macias, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martín Montes, A., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Menéndez-González, M., Mir, P., Molinuevo, J.L., Pastor, A.B., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Piñol Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J.L., A, Ruiz, Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vivancos, L., Moreno-Grau, Sonia, de Rojas, Itziar, Hernández, Isabel, Quintela, Inés, Montrreal, Laura, Alegret, Montserrat, Hernández-Olasagarre, Begoña, Madrid, Laura, González-Perez, Antonio, Maroñas, Olalla, Rosende-Roca, Maitée, Mauleón, Ana, Vargas, Liliana, Lafuente, Asunción, Abdelnour, Carla, Rodríguez-Gómez, Octavio, Gil, Silvia, Santos-Santos, Miguel Ángel, Espinosa, Ana, Ortega, Gemma, Sanabria, Ángela, Pérez-Cordón, Alba, Cañabate, Pilar, Moreno, Mariola, Preckler, Silvia, Ruiz, Susana, Aguilera, Nuria, Pineda, Juan Antonio, Macías, Juan, Alarcón-Martín, Emilio, Sotolongo-Grau, Oscar, Marquié, Marta, Monté-Rubio, Gemma, Valero, Sergi, Benaque, Alba, Clarimón, Jordi, Bullido, Maria Jesus, García-Ribas, Guillermo, Pástor, Pau, Sánchez-Juan, Pascual, Álvarez, Victoria, Piñol-Ripoll, Gerard, García-Alberca, Jose Maria, Royo, José Luis, Franco, Emilio, Mir, Pablo, Calero, Miguel, Medina, Miguel, Rábano, Alberto, Ávila, Jesús, Antúnez, Carmen, Real, Luis Miguel, Orellana, Adelina, Carracedo, Ángel, Sáez, María Eugenia, Tárraga, Lluís, Boada, Mercè, and Ruiz, Agustín

Published
2019
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2. Exploring APOE genotype effects on Alzheimer's disease risk and amyloid β burden in individuals with subjective cognitive decline: The FundacioACE Healthy Brain Initiative (FACEHBI) study baseline results

Author

Abdelnour, C., Aguilera, N., Alegret, M., Berthier, M., Boada, M., Buendia, M., Bullich, S., Campos, F., Cañabate, P., Cuevas, C., de Rojas, I., Espinosa, A., Gailhajenet, A., Diego, S., Gil, S., Giménez, J., Gismondi, R., Gómez-Chiari, M., Guitart, M., Hernández-Olasagarre, B., Hernández, I., Ibarria, M., Lafuente, A., Lomeña, F., Martín, E., Martínez, J., Mauleón, A., Monté, G., Moreno, M., Moreno-Grau, S., Núñez, L., Orellana, A., Ortega, G., Páez, A., Pancho, A., Pavía, J., Pelejà, E., Pérez-Cordon, A., Pérez-Grijalba, V., Pesini, P., Preckler, S., Rodríguez-Gómez, O., Romero, J., Rosende-Roca, M., Ruiz, A., Ruiz, S., Sanabria, A., Sánchez-Ruiz, D., Santos-Santos, M.A., Sarasa, M., Sotolongo-Grau, O., Tárraga, L., Tejero, M.A., Torres, M., Valero, S., Vargas, L., Vivas, A., Moreno–Grau, Sonia, Rodríguez-Gómez, Octavio, Sanabria, Ángela, Pérez-Cordón, Alba, Sánchez-Ruiz, Domingo, Abdelnour, Carla, Valero, Sergi, Hernández, Isabel, Rosende-Roca, Maitée, Mauleón, Ana, Vargas, Liliana, Lafuente, Asunción, Gil, Silvia, Santos-Santos, Miguel Ángel, Alegret, Montserrat, Espinosa, Ana, Ortega, Gemma, Guitart, Marina, Gailhajanet, Anna, de Rojas, Itziar, Sotolongo-Grau, Óscar, Ruiz, Susana, Aguilera, Nuria, Papasey, Judith, Martín, Elvira, Peleja, Esther, Lomeña, Francisco, Campos, Francisco, Vivas, Assumpta, Gómez-Chiari, Marta, Tejero, Miguel Ángel, Giménez, Joan, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Ruiz, Agustín, and Boada, Mercè

Published
2018
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3. Alzheimer's disease risk variants modulate endophenotypes in mild cognitive impairment

Author

Louwersheimer, Eva, Wolfsgruber, Steffen, Espinosa, Ana, Lacour, André, Heilmann-Heimbach, Stefanie, Alegret, Montserrat, Hernández, Isabel, Rosende-Roca, Maitée, Tárraga, Lluís, Boada, Mercè, Kornhuber, Johannes, Peters, Oliver, Frölich, Lutz, Hüll, Michael, Rüther, Eckart, Wiltfang, Jens, Scherer, Martin, Riedel-Heller, Steffi, Jessen, Frank, Nöthen, Markus M., Maier, Wolfgang, Koene, Ted, Scheltens, Philip, Holstege, Henne, Wagner, Michael, Ruiz, Agustín, van der Flier, Wiesje M., Becker, Tim, and Ramirez, Alfredo

Published
2016
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5. Predictive Value of the Alzheimer Polygenic Risk Score on Cognitive Decline in Patients with Alzheimer's Disease Dementia.

Author

Valero, Sergi, García‐Gutiérrez, Fernando, Marquié, Marta, de Rojas, Itziar, García‐González, Pablo, Cano, Amanda, Puerta, Raquel, Olivé, Clàudia, Alegret, Montserrat, Pytel, Vanesa Verónica, Rosende‐Roca, Maitee, Tárraga, Lluís, Boada, Mercè, and Ruiz, Agustin

Abstract

Background: Alzheimer's disease (AD) is a complex disease conditioned by environmental and genetic factors. Over the last few years, Genome‐Wide Association Studies (GWAS) have gained increasing interest representing the basis of a personalized medicine that aims to facilitate interventions at the preclinical stages. In most studies, the integration of the high‐dimensional GWAS data is accomplished via polygenic risk scores (PRSs) representing a measure of the genetic risk associated with a given phenotype. For the first time, this study aimed to explore the predictive value of a PRS developed to predict conversion to AD in patients with mild cognitive impairment (MCI) (AD‐PRS) (Bellenguez et al., 2022) on cognitive decline once the AD dementia stage has been established Method: The modulatory effect of genetics on cognitive decline was studied using a sample of 3921 subjects with AD dementia (clinical dementia rating (CDR) ≥1) evaluated at Ace Alzheimer Center Barcelona. Cognitive decline, operationalized as changes in Mini Mental State Examination (MMSE) scores over time, was modeled using multivariate regression models considering clinical and sociodemographic data, and the AD‐PRS. Interaction effects between the AD‐PRS and the other covariates were explored, and subsequently, mediation analyses were applied. Afterward, Machine Learning techniques were used to select the single nucleotide polymorphisms (SNPs) forming the AD‐PRS with the highest predictive value on cognitive decline. Result: Multivariate regression models showed a significant interaction of the AD‐PRS with years of education (coef =.0006; p‐value =.005). Increased scores of AD‐PRS combined with higher formal education were found to be associated with greater cognitive decline. Furthermore, Machine Learning models identified 18 SNPs related to cognitive decline in AD, demonstrating that genetic information improves the predictive performance of the models. Conclusion: This is the first study that demonstrates the predictive capacity of the AD‐PRS on cognitive decline in AD dementia. Years of education were shown to modulate, but not mediate, the effect of the AD‐PRS on cognitive progression. Additionally, a subset of SNPs comprising the AD‐PRS with the highest predictive value of cognitive decline in AD was identified. Altogether, these results provide new insights into the genetics of the disease. [ABSTRACT FROM AUTHOR]

Published
2023
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6. PSP/DEGESCO: A Progressive Supranuclear Palsy Genome‐Wide Association Study in the Spanish Population.

Author

García‐González, Pablo, de Rojas, Itziar, Rabano, Alberto, Bullido, María J., Puerta, Raquel, Olivé, Clàudia, Álvarez‐Martínez, Victoria, Perez‐Tur, Jordi, Mendioroz, Maite, Fortuño, Maria Antonia, Belbin, Olivia, Compta, Yaroslau, Sanchez‐Juan, Pascual, Tárraga, Lluís, Boada, Mercè, and Ruiz, Agustin

Abstract

Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative tauopathy. We genotyped all the available histopatologically confirmed PSP cases from the Spanish National Biobank Network and patients with a probable PSP diagnosis recruited from research groups linked to the Dementia Genetics Spanish Consortium (DEGESCO). Here, we present the results of the genome‐wide association study (GWAS) performed after the first stage of this project. Method: DNA samples were genotyped by the Centro Nacional de Genotipado (Santiago de Compostela, Spain) using the Affymetrix Axiom 815K Spanish biobank array. After quality control, we kept 156 histopathological (discovery) and 197 clinical (validation) PSP samples. Then, we selected 650 and 800 sex‐matched controls from GR@ACE/DEGESCO for stratified genome‐wide association of the discovery and validation sets, respectively (Table 1). We ran PC1‐4 adjusted logistic regressions with plink v2.00 and meta‐analyzed the discovery and validation sets using METAL. Finally, we meta‐analyzed our results with 36 previously reported SNPs1 reaching the largest PSP sample size to date (N = 3053). Result: We found a strong genome‐wide significant (GWS) signal associated to the MAPT H1/H2 haplotype (rs8070723 G: OR = 3.40; 95%CI = 2.64‐4.39; p = 2.60·10−20, Figure 1) and identified a previously unreported signal in chromosome 7p13 (rs76827509 T: OR = 0.45; 95%CI = 0.35‐0.58; p = 3.09·10−10). We replicated, with nominal significance, 5 GWS SNPs reported in previous GWAS (Table 2) and found significant effects for NFASC and TOMM40. Because APOE and TOMM40 are in strong linkage disequilibrium, we also checked the effect of APOE variants. We found a protective effect (OR = 0.66; 95%CI = 0.48‐0.90; p = 9.75·10−3) of the rs429358 C allele (APOE ε4) in our dataset. Conclusion: The strong GWS signal of the H1 haplotype confirms the validity of our GWAS results2. We were able to replicate several PSP loci (Table 1). The NFASC variant reached borderline GWS significance after meta‐analysis and is a good PSP risk factor candidate. Finally, the APOE ε4 allele was protective for PSP in our cohort. The second stage of PSP/DEGESCO genotyped 218 additional PSP samples. 1 Sanchez‐Contreras, M. Y. et al. Mol. Neurodegener. (2018) 2 Höglinger, G. U. et al. in Nature Genetics (2011) [ABSTRACT FROM AUTHOR]

Published
2023
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7. Identification of undiagnosed dementia cases using a web‐based pre‐screening tool: The MOPEAD project.

Author

Rodrigo, Adrián, Trigueros, Paloma, Jamilis, Laura, Alegret, Montserrat, Rodríguez, Octavio, Tárraga, Lluís, González‐Pérez, Antonio, Kramberger, Milica, Winblad, Bengt, Visser, Pieter Jelle, Jessen, Frank, Campo, Laura, and Boada, Mercè

Abstract

Introduction: Innovative patient engagement models are required to identify people with prodromal and mild Alzheimer's disease who are "hidden" in their communities and not normally found in a memory clinic setting. Methods: A marketing campaign and a web‐based pre‐screening tool were used to identify individuals at risk of dementia in five European countries. Harmonized clinical evaluation of these patients was performed in participating memory clinics within the MOPEAD project. Results: A total of 1487 individuals completed the pre‐screening, with 547 of them found to be at risk of dementia (36.8%). Among the subset of 91 patients with a positive pre‐screening result that underwent full clinical evaluation, 49 (53.8%) were diagnosed with either mild cognitive impairment or Alzheimer's disease. Conclusion: This novel web‐based pre‐screening tool showed to be a valid strategy to identify undiagnosed people with cognitive impairment. [ABSTRACT FROM AUTHOR]

Published
2021
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8. Macular vessel density in the superficial plexus is not associated to cerebrovascular damage in non‐demented individuals: data from the NORFACE cohort.

Author

Marquié, Marta, García‐Sánchez, Ainhoa, Sotolongo‐Grau, Oscar, Tartari, Juan Pablo, Sanabria, Angela, Esteban‐De Antonio, Ester, Pérez, Alba, Castilla‐Martí, Miguel, Castilla‐Martí, Luis, Martínez, Joan, Alarcón‐Martín, Emilio, Alegret, Montserrat, Aguilera, Núria, Vivas, Assumpta, M, Gómez‐Chiari, Escudero, José Miguel, Tejero, Miguel Angel, Tárraga, Lluís, Ruiz, Agustin, and Boada, Mercè

Abstract

Background: Optical Coherence Tomography angiography (OCT‐A) is a novel tool that allows the detection of retinal vascular changes. The comparison of OCT‐A measures with brain vascular burden is essential to validate the former as a surrogate of cerebrovascular damage and biomarker of cognitive decline. We aimed to investigate the association of macular vessel density (VD) in the superficial plexus assessed by OCT‐A with measures of cerebrovascular pathology quantified by brain magnetic resonance imaging (MRI) in a cohort of non‐demented individuals. Method: Clinical, demographical, APOE ε4 status, amyloid status, OCT‐A and brain MRI data from non‐demented participants of the FACEHBI and BIOFACE studies were included. We analyzed the association of macular VD in four quadrants (superior, nasal, inferior and temporal) with brain vascular burden using the Fazekas scale scores (dichotomized in two categories, 0‐1 vs 2‐3), assessed in a logistic regression analysis, and the volume of white matter hyperintensities (WMH) quantified by Freesurfer assessed in a multiple regression analysis. We additionally explored the associations of macular VD with hippocampal volume, ventricles volume and Alzheimer Disease cortical signature (ADCS) thickness assessed in a multiple regression analysis. All analyses were adjusted for age and dyslipidemia. Result: The study cohort comprised 188 participants: 89 with subjective cognitive decline (SCD) and 99 with mild cognitive impairment (MCI). Logistic regression analysis showed no significant differences of regional macular VD between the two Fazekas groups (all, p>0.05). Multiple regression analysis showed no significant association of regional macular VD with the volume of WMH (all, p>0.05). Macular VD in the nasal and inferior quadrants were positively associated with hippocampal volume (p = 0.009 and p = 0.021, respectively), but no association was detected with ventricles volume or ADCS thickness (both p>0.05). Conclusion: Our study showed that retinal vascular measures (regional macular VD in the superficial vascular plexus) assessed by OCT‐A were not associated with brain vascular damage quantified by the Fazekas scale and the WMH burden n in a cohort of non‐demented research participants with SCD and MCI. [ABSTRACT FROM AUTHOR]

Published
2023
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9. Diagnostic performance and clinical applicability of plasma pTau181 to predict dementia risk in a large real‐world cohort of a memory clinic.

Author

Cano, Amanda, Puerta, Raquel, Núñez‐Llaves, Raúl, de Rojas, Itziar, García‐González, Pablo, Olivé, Clàudia, Montrreal, Laura, Orellana, Adelina, Rosende‐Roca, Maitee, onio, Ester, Pytel, Vanesa Verónica, Alegret, Montserrat, Valero, Sergi, Tárraga, Lluís, Marquié, Marta, Boada, Mercè, and Ruiz, Agustin

Abstract

Background: The Alzheimer Association has recently remarked the diagnostic and prognostic revolution that plasma biomarkers will mean for AD diagnosis, and highlighting the need of further research to translate them as a realistic option in the clinical practice. However, many studies to date have assessed them in research cohorts. Here we evaluated the diagnostic performance and clinical applicability of plasma pTau181 as a predictive marker of dementia risk in a real‐world memory clinic cohort. Method: The ACE cohort encompass 1649 patients with subjective cognitive decline (SCD), mild cognitive impairment (MCI), AD dementia and other dementias, with a complete battery of neurological tests, biochemistry data, and paired CSF and plasma samples of the Ace Alzheimer Center Barcelona memory clinic. CSF AB42, AB40, pTau181 and tTau, and plasma pTau181 were measured using the Lumipulse G1200 automatic platform (Fujirebio Inc.). Complete cohort were divided in the Testing cohort (n = 1000) and Validation cohort (n = 649). Result: Plasma pTau181 significantly correlated (P<0.0001) with CSF pTau181 in MCI, AD dementia and other dementias, but not in SCD. Sex appeared not significant in plasma pTau181 levels, whereas age significantly influenced in the biomarker's performance. ROC curve of A+T+ patients vs rest showed an AUC = 0.8250 and P<0.0001. Specifically for MCI patients, ROC curve of MCI A+T+ vs MCI A‐T‐ showed and AUC = 0.8874 and P<0.0001. A cut off value of 1.300 pg/ml of plasma pTau181 exhibited a 93.6% sensibility, 72.4% specificity, 77.8% precision and only 8.3% of false negatives in MCI patients. Hazard ratio of survival of conversion analysis showed that MCI patients above this cut off value exhibited a 4.570 higher risk to convert to dementia than MCI under the cut off value. Validation cohort confirmed these findings. Conclusion: Plasma pTau181 could be useful as a pre‐screening biomarker of MCI patients with high risk to progress to dementia. However, positive patients will also require a CSF/PET confirmatory test. Plasma pTau181 by itself does not present a suitable performance in SCD patients. Another biomarker or a combination of biomarkers would be needed to this population. Further studies are need to obtain more clinical data and improve the biomarker performance to finally substitute CSF/PET biomarkers. [ABSTRACT FROM AUTHOR]

Published
2023
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10. Rare copy number variation in the GR@ACE/DEGESCO dementia dataset of spanish population.

Author

de Rojas, Itziar, García‐Ribas, Guillermo, Sanchez‐Juan, Pascual, Perez‐Tur, Jordi, Pastor, Pau, Bullido, María J., Álvarez‐Martínez, Victoria, Real, Luis Miguel, Mir, Pablo, Piñol‐Ripoll, Gerard, García‐Alberca, Jose María, Medina, Miguel, Sáez, María Eugenia, Carracedo, Angel, Tárraga, Lluís, Boada, Mercè, Van Der Lee, Sven J, and Ruiz, Agustin

Abstract

Background: Recent studies have found that duplications or deletions of DNA fragments, known as copy number variants (CNVs), may play a role in missing heritability for complex human diseases. Method: In that sense, we conducted a scan for CNVs in the GR@ACE/DEGESCO dementia dataset of Spanish population1 (n = 20,080 individuals using Axiom 815K Spanish biobank array (Thermo Fisher)). We ran CNV calling algorithms from PennCNV software to obtain high‐confidence calls for CNVs. After extensive quality control (QC) for individuals (sex discrepancies, excess of heterozygosity, high missingness, familiar relations and population outliers were excluded), CNVs (>50kb and nSNPs>10 were included), removing spurious CNVs in telomeric/centromeric regions, gene QC (ANOVA comparisons between DNA origin source evaluated in controls), 8,275 controls and 7,818 dementia cases were selected for following analysis. Result: Global burden analyses revealed highly significant differences between dementia cases and controls (dem/ctrl) in CNV rate of deletions (p = 2.69E‐04, meanctrl‐dem = 1.53‐1.38) but not in duplications (p = 0.535, meanctrl‐dem = 1.63‐1.61). However, only the number of genes affected by CNVs was significantly different in deletions (p = 0.042, meanctrl‐dem = 3.62‐3.10; duplications p = 0.448, meanctrl‐dem = 5.93‐5.68). We also observed a nominal deletion‐gene‐affected association by genes related to nervous system development pathway or intellectual disability such as VPS13B2 (nine cases affected), PKP3 (Freqctrl‐dem 0.17‐0.25%) and FBRSL13 (Freqctrl‐dem 0.15‐0.26%). The current study did not detect significant differences in CNVs that affect known Alzheimer's disease (AD) loci identified by recent genome‐wide association studies4 (deletions Fisher test p = 0.0875, duplications Fisher Test p = 0.5853). Nevertheless, we found three important AD genes with CNVs potentially associated to dementia. Specifically, we detected MAPT protective deletions (Freqctrl‐dem 0.16‐0.01%), ABCA7 risk deletions (Freqctrl‐dem 0.05‐0.14%) and APP CNVs detected in five dementia cases (0.064%). Because the technology used in our study has limitations in detecting small CNVs, future studies must carefully assess the presence of smaller CNVs and their relationship with dementia. Conclusion: We have detected potential CNVs in the Spanish population for Alzheimer's disease, however, because the technology used in our study has limitations in detecting small CNVs, future studies must carefully assess the presence of smaller CNVs and their relationship with dementia. [ABSTRACT FROM AUTHOR]

Published
2023
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12. Genetic dissection of Hippocampal sclerosis MRI surrogates.

Author

Olivé, Clàudia, de Rojas, Itziar, Zhang, Linda, Sotolongo‐Grau, Oscar, Quintela, Inés, García‐González, Pablo, García‐Sánchez, Ainhoa, Puerta, Raquel, Valero, Sergi, Cano, Amanda, Calero, Miguel, Rabano, Alberto, Pastor, Ana Belén, Ser, Teodoro, Medina, Miguel, Sanchez‐Juan, Pascual, Strange, Bryan A, Carracedo, Angel, Marquié, Marta, and Tárraga, Lluís

Abstract

Background: Hippocampal sclerosis of aging (HS) is one of the most predominant causes of dementia in elder populations and it is often misdiagnosed as Alzheimer's disease (AD). HS has recently been found to show a hippocampal atrophy pattern that might be key for the differentiation of this pathology from AD in the early stages of dementia. Method: In this study, we aimed to find SNPs associated with AD diagnosis that might be related to HS. To that end, we calculated a polygenic risk score (PRS) combining SNPs associated with AD by Bellenguez et al. (2022) and assessed their relation with HS‐by‐proxy based on magnetic resonance imaging (MRI) data of hippocampal subfield volumes from 1,130 individuals without dementia syndrome. Result: Our results show a significant association of AD‐PRS with fimbria and hippocampal body and head volumes. Association with these hippocampal subfields was also observed on the individual effects of the AD‐related variants in the SHARPIN (rs34173062) and TNIP1 (rs871269) genes. Besides, these loci remained consistently associated to HS‐aging after increasing the sample size by including an independent cohort of healthy individuals (N = 729). Conclusion: The results presented in this study suggest that some SNPs that have recently been identified as AD variants might be closely related to atrophy in hippocampal subfields instead of AD, and hence, could be instrumental to refine AD and HS pathways, their interrelationships, and to elaborate specific treatment for each condition. [ABSTRACT FROM AUTHOR]

Published
2023
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13. GENOME-WIDE ASSOCIATION STUDY OF ALZHEIMER’S DISEASE (AD) SUSCEPTIBILITY USING THE FUNDACIO ACE GENOME REPOSITORY: THE GR@ACE PROJECT

Author

Moreno-Grau, Sonia, Hernandez, Isabel, Hernández-Olasagarre, Begoña, Quintela, Inés, Montrreal, Laura, de Rojas, Itziar, Alegret, Montserrat, González-Pérez, Antonio, Monté-Rubio, Gemma, Valero, Sergi, Real, Luis Miguel, Carracedo, Angel, Sáez, María Eugenia, Orellana, Adelina, Tarraga, Lluis, Boada, Mercè, and Ruiz, Agustín Ruiz

Published
2018
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15. THE SPANISH VERSION OF FACE-NAME ASSOCIATIVE MEMORY EXAM (S-FNAME) PERFORMANCE IS RELATED TO AMYLOID BURDEN IN SUBJECTIVE COGNITIVE DECLINE

Author

Alegret, Monserrat, Sanabria, Angela, Rodriguez-Gomez, Octavio, Valero, Sergi, Sotolongo-Grau, Oscar, Abdelnour, Carla, Espinosa, Ana, Ortega, Gemma, Perez, Alba, Gailhajanet, Anna, Ibarria, Marta, Diego, Susana, Guitart, Marina, Hernandez, Isabel, Rosende-Roca, Maitee, Vargas, Liliana, Mauleon, Ana, Sanchez, Domingo, Gil, Silvia, Santos, Miguel, Martín, Elvira, Lomeña, Francisco, Ruiz, Agustín, Tarraga, Lluis, and Boada, Mercè

Published
2017
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16. ARE THERE DIFFERENCES IN THE OPINION OF PATIENTS WITH ALZHEIMER DISEASE AND THEIR CAREGIVERS ABOUT HAVING SUPPORT FROM A SERVICE ROBOT AT HOME?

Author

Abdelnour, Carla, Tantyna, Natalia, Hernandez, Joan, Giakoumis, Dimitris, Ribes, Joan Carles, Gerlowska, Justyna, Skrobas, Urszula, Korchut, Agnieszka, Grabowska, Katarzyna, Szklener, Sebastian, Hernandez, Isabel, Rosende-Roca, Maitee, Mauleon, Ana, Vargas, Liliana, Alegret, Monserrat, Espinosa, Ana, Ortega, Gemma, Sanchez, Domingo, Rodriguez-Gomez, Octavio, Sanabria, Angela, Perez, Alba, Canabate, Pilar, Moreno, Mariola, Preckler, Silvia, Ruiz, Agustín, Rejdak, Konrad, Tzovaras, Dimitrios, Tarraga, Lluis, and Boada, Mercè

Published
2017
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17. CORRELATIONS BETWEEN PLASMA AND BRAIN BETA-AMYLOID LEVELS IN INDIVIDUALS WITH SUBJECTIVE COGNITIVE DECLINE: THE FUNDACIÓ ACE HEALTHY BRAIN INITIATIVE (FACEHBI)

Author

de Rojas, Itziar, Romero, Judith, Rodriguez-Gomez, Octavio, Pesini, Pedro, Sanabria, Angela, Perez, Alba, Sanchez, Domingo, Abdelnour, Carla, Valero, Sergi, Hernandez, Isabel, Rosende-Roca, Maitee, Mauleon, Ana, Vargas, Liliana, Alegret, Monserrat, Espinosa, Ana, Ortega, Gemma, Guitart, Marina, Gailhajanet, Anna, Moreno, Sonia, Sotolongo-Grau, Oscar, Ruiz, Susana, Tarragona, Marina, Martín, Elvira, Palejà, Esther, Lomeña, Francisco, Campos, Francisco, Vivas, Assumpta, Chiari, Marta Gómez, Tejero, Miguel Angel, Giménez, Joan, Pérez-Grijalba, Virginia, Tarraga, Lluis, Orellana, Adelina, Ruiz, Agustín, Sarasa, Manuel, and Boada, Mercè

Published
2017
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18. GENETIC RISK FOR SCHIZOPHRENIA AND PSYCHOSIS IN ALZHEIMER DISEASE

Author

Ann A DeMichele-Sweet, Mary, Weamer, Elise A., Lambertus, Klei, Vrana, Dylan T., Hollingshead, Deborah J., Seltman, Howard J., Sims, Rebecca, Foroud, Tatiana, Hernandez, Isabel, Moreno-Grau, Sonia, Tarraga, Lluis, Boada, Mercè, Ruiz, Agustin, Williams, Julie, Mayeux, Richard, lopez, Oscar L., Sibille, Etienne L., Kamboh, M. Ilyas, Devlin, Bernie, and Sweet, Robert A.

Published
2017
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20. EXPLORING APOE GENOTYPE EFFECTS ON AD RISK AND BETA-AMYLOID BURDEN IN INDIVIDUALS WITH SUBJECTIVE COGNITIVE DECLINE: THE FACEHBI STUDY RESULTS

Author

Moreno-Grau, Sonia, Rodriguez, Octavio, Sanabria, Angela, Perez, Alba, Sanchez, Domingo, Abdelnour, Carla, Valero, Sergi, Hernandez, Isabel, Rosende-Roca, Maitee, Mauleon, Ana, Vargas, Liliana, Alegret, Monserrat, Espinosa, Ana, Ortega, Gemma, Guitart, Marina, Gailhajanet, Anna, de Rojas, Itziar, Sotolongo-Grau, Oscar, Ruiz, Susana, Tarragona, Marina, Serra, Judit, Martín, Elvira, Peleja, Esther, Lomeña, Francisco, Campos, Francisco, Vivas, Assumpta, Tejero, Miguel Angel, Giménez, Joan, Pesini, Pedro, Sarasa, Manuel, Martinez, Gabriel, Chiari, Marta Gómez, Orellana, Adelina, Tarraga, Lluis, Ruiz, Agustín, and Boada, Mercè

Published
2017
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21. RAMCIP PROJECT, A ROBOTIC ASSISTANT TO SUPPORT ALZHEIMER'S DISEASE PATIENTS AT HOME: A NOVEL APPROACH IN CAREGIVING

Author

Abdelnour, Carla, Tantinya, Natalia, Hernandez, Joan, Martin, Elvira, Garcia, Silvia, Ribes, Joan, Lafuente, Asuncion, Hernandez, Isabel, Rosende-Roca, Maitee, Mauleon, Ana, Vargas, Liliana, Alegret, Monserrat, Espinosa, Ana, Ortega, Gemma, Sanchez, Domingo, Rodriguez-Gomez, Octavio, Canabate, Pilar, Moreno, Mariola, Preckler, Silvia, Sanabria, Angela, Perez, Alba, Ruiz, Agustin, Tarraga, Lluis, and Boada, Mercè

Published
2016
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22. FUNDACIÓ ACE HEALTHY BRAIN INITIATIVE: A STUDY OF COGNITION AND BIOMARKERS IN INDIVIDUALS WITH SUBJECTIVE COGNITIVE DECLINE

Author

Rodriguez-Gomez, Octavio, Sanabria, Angela, Perez, Alba, Ruiz, Susana, Tarragona, Marina, Sanchez, Domingo, Pavía, Javier, Campos, Francisco, Vivas, Assumpta, Chiari, Marta Gómez, Tejero, Miguel Angel, Alegret, Monserrat, Espinosa, Ana, Ortega, Gemma, Abdelnour, Carla, Hernandez, Isabel, Ruiz, Agustin, Giménez, Joan, Lomeña, Francisco, Tarraga, Lluis, Sotolongo-Grau, Oscar, and Boada, Mercè

Published
2016
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23. GENETIC DETERMINANTS OF ALZHEIMER'S DISEASE PROGRESSION: EXPLORATORY ANALYSIS OF INTERNATIONAL GENOMICS OF ALZHEIMER PROJECT (IGAP) GENETIC MARKERS IN MMSE RATE OF DECLINE AND GDS

Author

Ruiz, Agustín, Heilman, Stefanie, Moreno, Sonia, Rosende-Roca, Maitee, Alegret, Monserrat, Valero, Sergi, Hernandez, Isabel, Mauleon, Ana, Espinosa, Ana, Leber, Markus, Lafuente, Asuncion, Ruiz, Susana, Vargas, Liliana, Rodriguez, Octavio, Ortega, Gemma, Sanchez, Domingo, Abdelnour, Carla, Jessen, Frank, Tarraga, Lluis, Nöthen, Markus, Maier, Wolfgang, Boada, Mercè, and Ramirez, Alfredo

Published
2016
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24. WHITE MATTER MICROSTRUCTURE DISRUPTION COULD BE AN EARLY PHENOMENON IN THE PATHOPHYSIOLOGY OF PRECLINICAL ALZHEIMER'S DISEASE: FUNDACIÓ ACE HEALTHY BRAIN INITIATIVE

Author

Rodriguez-Gomez, Octavio, Sanabria, Angela, Perez, Alba, Sanchez, Domingo, Ruiz, Susana, Tarragona, Marina, Pavía, Javier, Campos, Francisco, Vivas, Assumpta, Chiari, Marta Gómez, Tejero, Miguel Angel, Alegret, Monserrat, Espinosa, Ana, Ortega, Gemma, Abdelnour, Carla, Hernandez, Isabel, Ruiz, Agustin, Giménez, Joan, Lomeña, Francisco, Tarraga, Lluis, Sotolongo-Grau, Oscar, and Boada, Mercè

Published
2016
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25. EXPLORING INTERNATIONAL GENOMICS OF ALZHEIMER’S PROJECT (IGAP) GENETIC MARKERS' EFFECT ON AGE AT ONSET OF DEMENTIA IN ALZHEIMER’S DISEASE PATIENTS

Author

Ramirez, Alfredo, Moreno, Sonia, Heilman, Stefanie, Rosende-Roca, Maitee, Alegret, Monserrat, Valero, Sergi, Hernandez, Isabel, Mauleon, Ana, Espinosa, Ana, Leber, Markus, Lafuente, Asuncion, Ruiz, Susana, Vargas, Liliana, Rodriguez, Octavio, Ortega, Gemma, Abdelnour, Carla, Jessen, Frank, Sanchez, Domingo, Nöthen, Markus, Tarraga, Lluis, Maier, Wolfgang, Boada, Mercè, and Ruiz, Agustin

Published
2016
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26. IMPACT OF RECRUITMENT METHODS IN SUBJECTIVE COGNITIVE DECLINE

Author

Abdelnour, Carla, Rodriguez-Gomez, Octavio, Alegret, Monserrat, Ruiz, Agustin, Moreno, Sonia, Valero, Sergi, Sanabria, Angela, Hernandez, Isabel, Rosende-Roca, Maitee, Vargas, Liliana, Mauleon, Ana, Espinosa, Ana, Ortega, Gemma, Sanchez, Domingo, Perez, Alba, Diego, Susana, Gailhajanet, Anna, Guitart, Marina, Tarraga, Lluis, and Boada, Mercè

Published
2016
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28. A four-center study on the effect of polygenic risk score on cerebrospinal fluid markers and memory decline in mild cognitive impairment patients

Author

Louwersheimer, Eva, Wolfsgruber, Steffen, Espinosa, Ana, Lacour, Andre, Heilman, Stefanie, Alegret, Monserrat, Hernandez, Isabel, Rosende-Roca, Maitée, Tarraga, Lluis, Kornhuber, Johannes, Peters, Oliver, Frölich, Lutz, Hüll, Michael, Rüther, Eckhart, Wiltfang, Jens, Scherer, Martin, Riedel-Heller, Steffi G., Jessen, Frank, Nöthen, Markus, Maier, Wolfgang, Koene, Ted, Scheltens, Philip, Holstege, Henne, Wagner, Michael, Ruiz, Agustín, van der Flier, Wiesje M., and Ramirez, Alfredo

Published
2015
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29. Cognitive composites and prodromal Alzheimer’s disease

Author

Espinosa, Ana, Pesini, Pedro, San José, Itziar, Ruiz, Agustín, Valero, Sergi, Hernandez, Isabel, Alegret, Monserrat, Ruiz, Susana, Ibarria, Marta, Buendía, Mar, Lafuente, Asunción, Tárraga, Lluis, Boada, Merce, Sarasa, Manuel, and Sotolongo-Grau, Oscar

Published
2015
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31. ROLE OF PLD3 RARE VARIANTS IN EUROPEAN SPORADIC ALZHEIMER'S DISEASE PATIENTS

Author

Ramirez, Alfredo, Heilmann, Stefanie, Drichel, Dmitriy, Hernandez, Isabel, Lleó, Alberto, Lacour, André, Rosende-Roca, Maitée, Mauleon, Ana, Ruiz, Susana, Alegret, Montse, Espinosa, Ana, Sotolongo, Oscar, Blesa, Rafael, Fortea, Juan, Kornhuber, Johannes, Peters, Oliver, Heun, Reiner, Frölich, Lutz, Hüll, Michael, Kölsch, Heike, Heneka, Michael, Rüther, Eckart, Wiltfang, Jens, Tarraga, Lluis, Clarimón, Jordi, Jessen, Frank, Nöthen, Markus M., Boada, Mercè, Maier, Wolfgang, Becker, Tim, and Ruiz, Agustín

Published
2014
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32. A PHASE II STUDY TO EVALUATE THE EFFICACY AND SAFETY OF PLASMA REPLACEMENT WITH 5% ALBUMIN IN BETA-AMYLOID PEPTIDE CLEARANCE IN CEREBROSPINAL FLUID, AND ITS EFFECTS IN PATIENTS WITH MILD-MODERATE ALZHEIMER'S DISEASE

Author

Boada-Rovira, Mercè, Lopez, Oscar, Núñez, Laura, Ortiz, Pilar, Anaya, Fernando, Hernandez, Isabel, Olazarán, Javier, Tarraga, Lluis, Buendia, Mar, Pla, Ramon P., Ferrer, Isidro, Obisesan, Thomas Olabode, Shua-Haim, Joshua R., and Páez, Antonio

Published
2014
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33. TOWARD FINE MAPPING AND FUNCTIONAL CHARACTERIZATION OF GENOME-WIDE ASSOCIATION STUDY-IDENTIFIED LOCUS RS74615166 (TRIP4) FOR ALZHEIMER'S DISEASE

Author

Ruiz, Agustín, Heilmann, Stefanie, Leber, Markus, Becker, Tim, Toliat, Mohammad, Royo, José Luis, Wagner, Holger, Thelen, Mathias, Hernandez, Isabel, Alegret, Montse, Mauleón, Ana, Espinosa, Ana, Rosende-Roca, Maitée, Lacour, André, Grau, Oscar Sotolongo, Breteler, Monique M.B., Jessen, Frank, Tarraga, Lluis, Becker, Julian, Nürnberg, Peter, Nöthen, Markus, Maier, Wolfgang, Boada, Mercè, and Ramirez, Alfredo

Published
2014
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35. ATP5H/KCTD2 locus and Alzheimer's disease: An etiological link between key brain functions and dementia

Author

Rovira, Mercè Boada, Antunez, Carmen, Ramirez-Lorca, Reposo, Destefano, Anita, González-Pérez, Antonio, Gayán, Javier, López-Arrieta, Jesús, Ikram, Mohammad, Hernandez, Isabel, Marín, Juan, Galán, José Jorge, Bis, Joshua, Mauleon, Ana, Rosende-Roca, Maitée, Moreno-Rey, Concha, Gudnason, Vilmundur, Morón, Francisco Jesús, Velasco, Juan, Carrasco, José Miguel, Alegret, Montse, Espinosa, Ana, Vinyes-Junque, Georgina, Lafuente, Asuncion, Vargas, Liliana, Fitzpatrick, Annette, Launer, Lenore, Sáez, María Eugenia, Vázquez, Enrique, Becker, James, Lopez, Oscar, Tarraga, Lluis, van Duijn, Cornelia, Real, Luis Miguel, Seshadri, Sudha, and Ruiz, Agustín

Published
2012
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37. Exploratory analysis of seven confirmed risk factors for Alzheimer's disease with disease progression

Author

Ruiz, Agustín, Hernandez, Isabel, Rosende-Roca, Maitée, González-Pérez, Antonio, Rodríguez-Noriega, Emma, Ramirez-Lorca, Reposo, Mauleon, Ana, Moreno-Rey, Concha, Boswell, Lucie, Tune, Larry, Valero, Sergi, Alegret, Montse, Gayán, Javier, Becker, James, Real, Luis Miguel, Tarraga, Lluis, Ballard, Clive, Terrin, Michael, Sherman, Stephanie, Payami, Haydeh, Lopez, Oscar, Mintzer, Jacobo, and Rovira, Mercè Boada

Published
2012
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43. Meta‐GWAS of amyloid burden endophenotype combining PET and CSF results.

Author

Puerta, Raquel, de Rojas, Itziar, Hernandez, Isabel, Montrreal, Laura, Lage, Carmen, Quintela, Inés, Aguilera, Nuria, García‐González, Pablo, Sotolongo‐Grau, Oscar, S, Alonso‐Lana, Rodríguez, Eloy Rodríguez, Orellana, Adelina, Marquié, Marta, Sáez, María Eugenia, Carracedo, Angel, Tárraga, Lluís, Moreno‐Grau, Sonia, Boada, Mercè, Sanchez‐Juan, Pascual, and Ruiz, Agustín

Abstract

Background: It is well known that Alzheimer's disease (AD) has a strong genetic component. Even though it is a highly heritable disease, a big fraction of AD heritability remains to be elucidated. Genetic analysis of endophenotypes tightly linked to the disease might help to identify or confirm AD genetic risk factors. Methods: GWAS results Amyloid β (Aβ42) in cerebrospinal fluid (CSF) or positron emission tomography (PET) measures were combined in a single meta‐analysis. Six independent GWAS were run using a generalized linear model with four principal components and status as a covariate (PLINK software). The datasets had data for two different amyloid endophenotypes: CSF‐Aβ42 levels from ADNI, Marqués de Valdecilla Hospital (Santander) and Fundació ACE (N= 1051); or PET‐SUVR (amyloid global standardized uptake ratio) from ADNI and Fundació ACE (N= 607). GWAS results were meta‐analysed using the sample size weighted method (METAL software). To reduce false positive findings, only genetic signals with opposite effect direction in PET and CSF endophenotypes were considered. Finally, we tried to replicate previously known genes for AD (de Rojas et al., MedRxiv 2019). Results: After selecting SNPs with opposite effect on CSF and PET associations (N= 325051), we only observed genome wide significance in APOE locus (rs429358, P‐value= 2.202×10‐48) in the meta‐GWAS. We also observed several suggestive signals in chromosomes 3, 5 and 6 (rs72977014, rs13164192 and rs4960198); further studies are needed to add evidence of AD association. Finally, relative to known AD genes we were able to replicate CR1 (rs4844610, P‐value= 0.045) signal. Conclusion: By combining data from both β‐amyloid endophenotypes (CSF and PET) we were able to replicate some well‐known AD genes indicating that this approach could be a useful strategy to identify novel variants increasing the knowledge of AD genetic architecture. [ABSTRACT FROM AUTHOR]

Published
2021
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46. Estrogen receptor alpha (ESR1) gene variants are associated to Alzheimer's disease in Spanish population

Author

Boada, Mercè, Antunez, Carmen, Lopez-Arrieta, J., Hernandez, Isabel, Martinez-Lage, Pablo, Mauleon, Ana, Rosende-Roca, Maitee, Echavarri, Carmen, Alegret, Montserrat, Ramirez-Lorca, Reposo, Moreno, Concepcion, Moron, Francisco J., Marin, J., Tárraga, Lluís, Real, Luis Miguel, Gayan, Javier, González-Pérez, Antonio, Galan, J. Jorge, and Ruiz, Agustín

Published
2009
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47. Molecular analysis of GOLPH2 gene SNPs in Alzheimer's disease

Author

Antúnez, Carmen, Boada, Merçe, Arrieta, J. López, Hernández, Isabel, Lage, Pablo Martínez, Mauleón, A., Rosende-Roca, R., Echavarri, C., Alegret, M., Ramírez-Lorca, R., Moreno, C., Morón, F.J., Marín, Juan, Tárraga, Luis, Real, L.M., González-Pérez, A., Galan, J.J., and Ruiz, Agustin

Published
2009
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