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Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome

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dc.contributor.author Gorijala, Priyanka
dc.contributor.author Aslam, M. Muaaz
dc.contributor.author Dang, Lam-Ha T.
dc.contributor.author Xicota, L.
dc.contributor.author Fernández, María V.
dc.contributor.author Sung, Yun Ju
dc.contributor.author Fan, Kang-Hsien
dc.contributor.author Feingold, Eleanor
dc.contributor.author Surace, Ezequiel Ignacio
dc.contributor.author Chhatwal, Jasmeer P.
dc.contributor.author Hom, Christy L.
dc.contributor.author Dominantly Inherited Alzheimer Network
dc.contributor.author NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators
dc.contributor.author Hartley, Sigan L.
dc.contributor.author Hassenstab, Jason
dc.contributor.author Perrin, Richard J.
dc.contributor.author Mapstone, Mark
dc.contributor.author Zaman, Shahid H.
dc.contributor.author Ances, Beau M.
dc.contributor.author Kamboh, M. Ilyas
dc.contributor.author Lee, Joseph H.
dc.contributor.author Cruchaga, Carlos
dc.date.accessioned 2024-03-05T12:28:49Z
dc.date.available 2024-03-05T12:28:49Z
dc.date.issued 2023-10-19
dc.identifier.citation Gorijala P, Aslam MM, Dang LT, Xicota L, Fernandez MV, Sung YJ, Fan KH, Feingold E, Surace EI, Chhatwal JP, Hom CL; Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI); NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators; Hartley SL, Hassenstab J, Perrin RJ, Mapstone M, Zaman SH, Ances BM, Kamboh MI, Lee JH, Cruchaga C. Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome. Alzheimers Dement. 2024 Feb;20(2):1038-1049. doi: 10.1002/alz.13506. Epub 2023 Oct 19. es_ES
dc.identifier.uri https://doi.org/10.1002/alz.13506
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/1030
dc.description.abstract Introduction: This study aimed to investigate the influence of the overall Alzheimer's disease (AD) genetic architecture on Down syndrome (DS) status, cognitive measures, and cerebrospinal fluid (CSF) biomarkers. Methods: AD polygenic risk scores (PRS) were tested for association with DS-related traits. Results: The AD risk PRS was associated with disease status in several cohorts of sporadic late- and early-onset and familial late-onset AD, but not in familial early-onset AD or DS. On the other hand, lower DS Mental Status Examination memory scores were associated with higher PRS, independent of intellectual disability and APOE (PRS including APOE, PRSAPOE , p = 2.84 × 10-4 ; PRS excluding APOE, PRSnonAPOE , p = 1.60 × 10-2 ). PRSAPOE exhibited significant associations with Aβ42, tTau, pTau, and Aβ42/40 ratio in DS. Discussion: These data indicate that the AD genetic architecture influences cognitive and CSF phenotypes in DS adults, supporting common pathways that influence memory decline in both traits. Highlights: Examination of the polygenic risk of AD in DS presented here is the first of its kind. AD PRS influences memory aspects in DS individuals, independently of APOE genotype. These results point to an overlap between the genes and pathways that leads to AD and those that influence dementia and memory decline in the DS population. APOE ε4 is linked to DS cognitive decline, expanding cognitive insights in adults. es_ES
dc.language.iso eng es_ES
dc.publisher John Wiley & Sons es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.subject Down Syndrome es_ES
dc.subject Síndrome de Down es_ES
dc.subject Alzheimer Disease es_ES
dc.subject Enfermedad de Alzheimer es_ES
dc.title Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.description.fil Fil: Surace, Ezequiel Ignacio. Fleni. Departamento de Neuropatología y Biología Molecular. Laboratorio de Enfermedades Neurodegenerativas; Argentina. Fleni. Instituto de Neurociencias FLENI-CONICET. Laboratorio de Investigación Aplicada a las Neurociencias; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.
dc.relation.ispartofVOLUME 20
dc.relation.ispartofNUMBER 2
dc.relation.ispartofPAGINATION 1038-1049.
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Hoboken
dc.relation.ispartofTITLE Alzheimer's & dementia : the journal of the Alzheimer's Association
dc.relation.ispartofISSN 1552-5279
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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