Genetic characterization of the ALFA study
INTRODUCTION: In 2013, the ALzheimer's and FAmilies (ALFA) project was established to investigate pathophysiological changes in preclinical Alzheimer's disease (AD), and to foster research on early detection and preventive interventions. METHODS: We conducted a comprehensive genetic characterization...
| Authors: | ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; |
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| Format: | Article |
| Publication date: | 2023 |
| Country: | España |
| Institution: | Universitat Autònoma de Barcelona |
| Repository: | Dipòsit Digital de Documents de la UAB |
| Language: | English |
| OAI Identifier: | oai:ddd.uab.cat:289223 |
| Online Access: | https://ddd.uab.cat/record/289223 https://dx.doi.org/urn:doi:10.1002/alz.13537 |
| Access Level: | Open access |
| Keyword: | AD continuum ALFA study Alzheimer's disease Neurogenetics Neurological diseases Prevention |
| _version_ | 1878736161693761536 |
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| author | Vilor Tejedor, Natalia |
| author2 | Genius, Patricia Rodríguez-Fernández, Blanca Minguillón, Carolina Sadeghi, Iman González-Escalante, Armand Crous-Bou, Marta|||0000-0003-1493-4288 Suárez-Calvet, Marc|||0000-0002-2993-569X Grau-Rivera, Oriol|||0000-0002-4730-5341 Brugulat-Serrat, Anna Sánchez Benavides, Gonzalo Esteller, M.|||0000-0003-4490-6093 Fauria, Karine Molinuevo, José Luis|||0000-0003-0485-6001 Navarro, Arcadi|||0000-0003-2162-8246 Gispert, Juan Domingo|||0000-0002-6155-0642 |
| author2_role | author author author author author author author author author author author author author author author |
| author_browse | Brugulat-Serrat, Anna Crous-Bou, Marta|||0000-0003-1493-4288 Esteller, M.|||0000-0003-4490-6093 Fauria, Karine Genius, Patricia Gispert, Juan Domingo|||0000-0002-6155-0642 González-Escalante, Armand Grau-Rivera, Oriol|||0000-0002-4730-5341 Minguillón, Carolina Molinuevo, José Luis|||0000-0003-0485-6001 Navarro, Arcadi|||0000-0003-2162-8246 Rodríguez-Fernández, Blanca Sadeghi, Iman Suárez-Calvet, Marc|||0000-0002-2993-569X Sánchez Benavides, Gonzalo Vilor Tejedor, Natalia |
| author_facet | Vilor Tejedor, Natalia Genius, Patricia Rodríguez-Fernández, Blanca Minguillón, Carolina Sadeghi, Iman González-Escalante, Armand Crous-Bou, Marta|||0000-0003-1493-4288 Suárez-Calvet, Marc|||0000-0002-2993-569X Grau-Rivera, Oriol|||0000-0002-4730-5341 Brugulat-Serrat, Anna Sánchez Benavides, Gonzalo Esteller, M.|||0000-0003-4490-6093 Fauria, Karine Molinuevo, José Luis|||0000-0003-0485-6001 Navarro, Arcadi|||0000-0003-2162-8246 Gispert, Juan Domingo|||0000-0002-6155-0642 |
| author_role | author |
| collection | Dipòsit Digital de Documents de la UAB |
| description | INTRODUCTION: In 2013, the ALzheimer's and FAmilies (ALFA) project was established to investigate pathophysiological changes in preclinical Alzheimer's disease (AD), and to foster research on early detection and preventive interventions. METHODS: We conducted a comprehensive genetic characterization of ALFA participants with respect to neurodegenerative/cerebrovascular diseases, AD biomarkers, brain endophenotypes, risk factors and aging biomarkers. We placed particular emphasis on amyloid/tau status and assessed gender differences. Multiple polygenic risk scores were computed to capture different aspects of genetic predisposition. We additionally compared AD risk in ALFA to that across the full disease spectrum from the Alzheimer's Disease Neuroimaging Initiative (ADNI). RESULTS: Results show that the ALFA project has been successful at establishing a cohort of cognitively unimpaired individuals at high genetic predisposition of AD. DISCUSSION: It is, therefore, well-suited to study early pathophysiological changes in the preclinical AD continuum. Highlights Prevalence of ε4 carriers in ALzheimer and FAmilies (ALFA) is higher than in the general European population The ALFA study is highly enriched in Alzheimer's disease (AD) genetic risk factors beyond APOE AD genetic profiles in ALFA are similar to clinical groups along the continuum ALFA has succeeded in establishing a cohort of cognitively unimpaired individuals at high genetic AD risk ALFA is well suited to study pathogenic events/early pathophysiological changes in AD. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_8a14cfbffb3805ff4dd5b642ce015c28 |
| institution | Universitat Autònoma de Barcelona |
| instname_str | Universitat Autònoma de Barcelona |
| language | eng |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:ddd.uab.cat:289223 |
| publishDate | 2023 |
| publishDateSort | 2023 |
| reponame_str | Dipòsit Digital de Documents de la UAB |
| spelling | Genetic characterization of the ALFA study Uncovering genetic profiles in the Alzheimer's continuum Vilor Tejedor, Natalia Genius, Patricia Rodríguez-Fernández, Blanca Minguillón, Carolina Sadeghi, Iman González-Escalante, Armand Crous-Bou, Marta|||0000-0003-1493-4288 Suárez-Calvet, Marc|||0000-0002-2993-569X Grau-Rivera, Oriol|||0000-0002-4730-5341 Brugulat-Serrat, Anna Sánchez Benavides, Gonzalo Esteller, M.|||0000-0003-4490-6093 Fauria, Karine Molinuevo, José Luis|||0000-0003-0485-6001 Navarro, Arcadi|||0000-0003-2162-8246 Gispert, Juan Domingo|||0000-0002-6155-0642 AD continuum ALFA study Alzheimer's disease Neurogenetics Neurological diseases Prevention INTRODUCTION: In 2013, the ALzheimer's and FAmilies (ALFA) project was established to investigate pathophysiological changes in preclinical Alzheimer's disease (AD), and to foster research on early detection and preventive interventions. METHODS: We conducted a comprehensive genetic characterization of ALFA participants with respect to neurodegenerative/cerebrovascular diseases, AD biomarkers, brain endophenotypes, risk factors and aging biomarkers. We placed particular emphasis on amyloid/tau status and assessed gender differences. Multiple polygenic risk scores were computed to capture different aspects of genetic predisposition. We additionally compared AD risk in ALFA to that across the full disease spectrum from the Alzheimer's Disease Neuroimaging Initiative (ADNI). RESULTS: Results show that the ALFA project has been successful at establishing a cohort of cognitively unimpaired individuals at high genetic predisposition of AD. DISCUSSION: It is, therefore, well-suited to study early pathophysiological changes in the preclinical AD continuum. Highlights Prevalence of ε4 carriers in ALzheimer and FAmilies (ALFA) is higher than in the general European population The ALFA study is highly enriched in Alzheimer's disease (AD) genetic risk factors beyond APOE AD genetic profiles in ALFA are similar to clinical groups along the continuum ALFA has succeeded in establishing a cohort of cognitively unimpaired individuals at high genetic AD risk ALFA is well suited to study pathogenic events/early pathophysiological changes in AD. https://ddd.uab.cat/record/289223 https://dx.doi.org/urn:doi:10.1002/alz.13537 |
| spellingShingle | Genetic characterization of the ALFA study Vilor Tejedor, Natalia AD continuum ALFA study Alzheimer's disease Neurogenetics Neurological diseases Prevention |
| title | Genetic characterization of the ALFA study |
| title_full | Genetic characterization of the ALFA study |
| title_fullStr | Genetic characterization of the ALFA study |
| title_full_unstemmed | Genetic characterization of the ALFA study |
| title_short | Genetic characterization of the ALFA study |
| title_sort | Genetic characterization of the ALFA study |
| topic | AD continuum ALFA study Alzheimer's disease Neurogenetics Neurological diseases Prevention |
| topic_facet | AD continuum ALFA study Alzheimer's disease Neurogenetics Neurological diseases Prevention |
| url | https://ddd.uab.cat/record/289223 https://dx.doi.org/urn:doi:10.1002/alz.13537 |