Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome
- Autores
- Gorijala, Priyanka; Aslam, M. Muaaz; Dang, Lam Ha T.; Xicota, L.; Fernandez, Maria V.; Sung, Yun Ju; Fan, Kang Hsien; Feingold, Eleanor; Surace, Ezequiel Ignacio; Chhatwal, Jasmeer P.; Hom, Christy L.; Hartley, Sigan L.; Hassenstab, Jason; Perrin, Richard J.; Mapstone, Mark; Zaman, Shahid H.; Ances, Beau M.; Kamboh, M. Ilyas; Lee, Joseph H.; Cruchaga, Carlos
- Año de publicación
- 2023
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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 earlyonset 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.
Fil: Gorijala, Priyanka. Washington State University; Estados Unidos
Fil: Aslam, M. Muaaz. University of Pittsburgh; Estados Unidos
Fil: Dang, Lam Ha T.. Columbia University; Estados Unidos
Fil: Xicota, L.. Columbia University; Estados Unidos
Fil: Fernandez, Maria V.. Washington State University; Estados Unidos
Fil: Sung, Yun Ju. Washington State University; Estados Unidos
Fil: Fan, Kang Hsien. University of Pittsburgh; Estados Unidos
Fil: Feingold, Eleanor. University of Pittsburgh; Estados Unidos
Fil: Surace, Ezequiel Ignacio. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia. Instituto de Neurociencias - Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Neurociencias; Argentina
Fil: Chhatwal, Jasmeer P.. Harvard Medical School; Estados Unidos
Fil: Hom, Christy L.. University of California; Estados Unidos
Fil: Hartley, Sigan L.. University of Wisconsin; Estados Unidos
Fil: Hassenstab, Jason. Washington University in St. Louis; Estados Unidos
Fil: Perrin, Richard J.. Washington University in St. Louis; Estados Unidos
Fil: Mapstone, Mark. University of California at Irvine; Estados Unidos
Fil: Zaman, Shahid H.. University of Cambridge; Estados Unidos
Fil: Ances, Beau M.. Washington State University; Estados Unidos
Fil: Kamboh, M. Ilyas. University of Pittsburgh; Estados Unidos
Fil: Lee, Joseph H.. Columbia University; Estados Unidos
Fil: Cruchaga, Carlos. Washington University in St. Louis; Estados Unidos - Materia
-
AMYLOID PRECURSOR PROTEIN
APOLIPROTEIN E APOE
AREA UNDER THE CURVE
CEREBROSPINAL FLUID BIOMARKERS
COGNITIVE BATTERIES
DOMINANTLY INHERITED ALZHEIMER NETWORK
DOWN SYNDROME
EARLY-ONSET ALZHEIMER'S DISEASE
EARLY-ONSET AUTOSOMAL DOMINANT
GENETIC ARCHITECTURE
GENETIC RISK FACTOR
LATE-ONSET ALZHEIMER'S DISEASE
POLYGENIC RISK SCORE
PSEN1
PSEN2
SPORADIC LATE-ONSET ALZHEIMER'S DISEASE - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/240746
Ver los metadatos del registro completo
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CONICET Digital (CONICET) |
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Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndromeGorijala, PriyankaAslam, M. MuaazDang, Lam Ha T.Xicota, L.Fernandez, Maria V.Sung, Yun JuFan, Kang HsienFeingold, EleanorSurace, Ezequiel IgnacioChhatwal, Jasmeer P.Hom, Christy L.Hartley, Sigan L.Hassenstab, JasonPerrin, Richard J.Mapstone, MarkZaman, Shahid H.Ances, Beau M.Kamboh, M. IlyasLee, Joseph H.Cruchaga, CarlosAMYLOID PRECURSOR PROTEINAPOLIPROTEIN E APOEAREA UNDER THE CURVECEREBROSPINAL FLUID BIOMARKERSCOGNITIVE BATTERIESDOMINANTLY INHERITED ALZHEIMER NETWORKDOWN SYNDROMEEARLY-ONSET ALZHEIMER'S DISEASEEARLY-ONSET AUTOSOMAL DOMINANTGENETIC ARCHITECTUREGENETIC RISK FACTORLATE-ONSET ALZHEIMER'S DISEASEPOLYGENIC RISK SCOREPSEN1PSEN2SPORADIC LATE-ONSET ALZHEIMER'S DISEASEhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3INTRODUCTION: 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 earlyonset 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.Fil: Gorijala, Priyanka. Washington State University; Estados UnidosFil: Aslam, M. Muaaz. University of Pittsburgh; Estados UnidosFil: Dang, Lam Ha T.. Columbia University; Estados UnidosFil: Xicota, L.. Columbia University; Estados UnidosFil: Fernandez, Maria V.. Washington State University; Estados UnidosFil: Sung, Yun Ju. Washington State University; Estados UnidosFil: Fan, Kang Hsien. University of Pittsburgh; Estados UnidosFil: Feingold, Eleanor. University of Pittsburgh; Estados UnidosFil: Surace, Ezequiel Ignacio. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia. Instituto de Neurociencias - Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Neurociencias; ArgentinaFil: Chhatwal, Jasmeer P.. Harvard Medical School; Estados UnidosFil: Hom, Christy L.. University of California; Estados UnidosFil: Hartley, Sigan L.. University of Wisconsin; Estados UnidosFil: Hassenstab, Jason. Washington University in St. Louis; Estados UnidosFil: Perrin, Richard J.. Washington University in St. Louis; Estados UnidosFil: Mapstone, Mark. University of California at Irvine; Estados UnidosFil: Zaman, Shahid H.. University of Cambridge; Estados UnidosFil: Ances, Beau M.. Washington State University; Estados UnidosFil: Kamboh, M. Ilyas. University of Pittsburgh; Estados UnidosFil: Lee, Joseph H.. Columbia University; Estados UnidosFil: Cruchaga, Carlos. Washington University in St. Louis; Estados UnidosElsevier Science Inc.2023-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/240746Gorijala, Priyanka; Aslam, M. Muaaz; Dang, Lam Ha T.; Xicota, L.; Fernandez, Maria V.; et al.; Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome; Elsevier Science Inc.; Alzheimers & Dementia; 9-2023; 1-121552-5260CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1002/alz.13506info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:40:16Zoai:ri.conicet.gov.ar:11336/240746instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:40:17.132CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome |
| title |
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome |
| spellingShingle |
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome Gorijala, Priyanka AMYLOID PRECURSOR PROTEIN APOLIPROTEIN E APOE AREA UNDER THE CURVE CEREBROSPINAL FLUID BIOMARKERS COGNITIVE BATTERIES DOMINANTLY INHERITED ALZHEIMER NETWORK DOWN SYNDROME EARLY-ONSET ALZHEIMER'S DISEASE EARLY-ONSET AUTOSOMAL DOMINANT GENETIC ARCHITECTURE GENETIC RISK FACTOR LATE-ONSET ALZHEIMER'S DISEASE POLYGENIC RISK SCORE PSEN1 PSEN2 SPORADIC LATE-ONSET ALZHEIMER'S DISEASE |
| title_short |
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome |
| title_full |
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome |
| title_fullStr |
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome |
| title_full_unstemmed |
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome |
| title_sort |
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome |
| dc.creator.none.fl_str_mv |
Gorijala, Priyanka Aslam, M. Muaaz Dang, Lam Ha T. Xicota, L. Fernandez, Maria V. Sung, Yun Ju Fan, Kang Hsien Feingold, Eleanor Surace, Ezequiel Ignacio Chhatwal, Jasmeer P. Hom, Christy L. Hartley, Sigan L. Hassenstab, Jason Perrin, Richard J. Mapstone, Mark Zaman, Shahid H. Ances, Beau M. Kamboh, M. Ilyas Lee, Joseph H. Cruchaga, Carlos |
| author |
Gorijala, Priyanka |
| author_facet |
Gorijala, Priyanka Aslam, M. Muaaz Dang, Lam Ha T. Xicota, L. Fernandez, Maria V. Sung, Yun Ju Fan, Kang Hsien Feingold, Eleanor Surace, Ezequiel Ignacio Chhatwal, Jasmeer P. Hom, Christy L. Hartley, Sigan L. Hassenstab, Jason Perrin, Richard J. Mapstone, Mark Zaman, Shahid H. Ances, Beau M. Kamboh, M. Ilyas Lee, Joseph H. Cruchaga, Carlos |
| author_role |
author |
| author2 |
Aslam, M. Muaaz Dang, Lam Ha T. Xicota, L. Fernandez, Maria V. Sung, Yun Ju Fan, Kang Hsien Feingold, Eleanor Surace, Ezequiel Ignacio Chhatwal, Jasmeer P. Hom, Christy L. Hartley, Sigan L. Hassenstab, Jason Perrin, Richard J. Mapstone, Mark Zaman, Shahid H. Ances, Beau M. Kamboh, M. Ilyas Lee, Joseph H. Cruchaga, Carlos |
| author2_role |
author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
AMYLOID PRECURSOR PROTEIN APOLIPROTEIN E APOE AREA UNDER THE CURVE CEREBROSPINAL FLUID BIOMARKERS COGNITIVE BATTERIES DOMINANTLY INHERITED ALZHEIMER NETWORK DOWN SYNDROME EARLY-ONSET ALZHEIMER'S DISEASE EARLY-ONSET AUTOSOMAL DOMINANT GENETIC ARCHITECTURE GENETIC RISK FACTOR LATE-ONSET ALZHEIMER'S DISEASE POLYGENIC RISK SCORE PSEN1 PSEN2 SPORADIC LATE-ONSET ALZHEIMER'S DISEASE |
| topic |
AMYLOID PRECURSOR PROTEIN APOLIPROTEIN E APOE AREA UNDER THE CURVE CEREBROSPINAL FLUID BIOMARKERS COGNITIVE BATTERIES DOMINANTLY INHERITED ALZHEIMER NETWORK DOWN SYNDROME EARLY-ONSET ALZHEIMER'S DISEASE EARLY-ONSET AUTOSOMAL DOMINANT GENETIC ARCHITECTURE GENETIC RISK FACTOR LATE-ONSET ALZHEIMER'S DISEASE POLYGENIC RISK SCORE PSEN1 PSEN2 SPORADIC LATE-ONSET ALZHEIMER'S DISEASE |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
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 earlyonset 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. Fil: Gorijala, Priyanka. Washington State University; Estados Unidos Fil: Aslam, M. Muaaz. University of Pittsburgh; Estados Unidos Fil: Dang, Lam Ha T.. Columbia University; Estados Unidos Fil: Xicota, L.. Columbia University; Estados Unidos Fil: Fernandez, Maria V.. Washington State University; Estados Unidos Fil: Sung, Yun Ju. Washington State University; Estados Unidos Fil: Fan, Kang Hsien. University of Pittsburgh; Estados Unidos Fil: Feingold, Eleanor. University of Pittsburgh; Estados Unidos Fil: Surace, Ezequiel Ignacio. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia. Instituto de Neurociencias - Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Neurociencias; Argentina Fil: Chhatwal, Jasmeer P.. Harvard Medical School; Estados Unidos Fil: Hom, Christy L.. University of California; Estados Unidos Fil: Hartley, Sigan L.. University of Wisconsin; Estados Unidos Fil: Hassenstab, Jason. Washington University in St. Louis; Estados Unidos Fil: Perrin, Richard J.. Washington University in St. Louis; Estados Unidos Fil: Mapstone, Mark. University of California at Irvine; Estados Unidos Fil: Zaman, Shahid H.. University of Cambridge; Estados Unidos Fil: Ances, Beau M.. Washington State University; Estados Unidos Fil: Kamboh, M. Ilyas. University of Pittsburgh; Estados Unidos Fil: Lee, Joseph H.. Columbia University; Estados Unidos Fil: Cruchaga, Carlos. Washington University in St. Louis; Estados Unidos |
| description |
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 earlyonset 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. |
| publishDate |
2023 |
| dc.date.none.fl_str_mv |
2023-09 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/240746 Gorijala, Priyanka; Aslam, M. Muaaz; Dang, Lam Ha T.; Xicota, L.; Fernandez, Maria V.; et al.; Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome; Elsevier Science Inc.; Alzheimers & Dementia; 9-2023; 1-12 1552-5260 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/240746 |
| identifier_str_mv |
Gorijala, Priyanka; Aslam, M. Muaaz; Dang, Lam Ha T.; Xicota, L.; Fernandez, Maria V.; et al.; Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome; Elsevier Science Inc.; Alzheimers & Dementia; 9-2023; 1-12 1552-5260 CONICET Digital CONICET |
| dc.language.none.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.1002/alz.13506 |
| dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-nd/2.5/ar/ |
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openAccess |
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https://creativecommons.org/licenses/by-nc-nd/2.5/ar/ |
| dc.format.none.fl_str_mv |
application/pdf application/pdf |
| dc.publisher.none.fl_str_mv |
Elsevier Science Inc. |
| publisher.none.fl_str_mv |
Elsevier Science Inc. |
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reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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13.070432 |