Evidence map›Paper›PMID 37855447›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2024

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

Priyanka Gorijala, M Muaaz Aslam, Lam-Ha T Dang, L Xicota, Maria V Fernandez, Yun Ju Sung, Kang-Hsien Fan, Eleanor Feingold, Ezequiel I Surace, Jasmeer P Chhatwal and 12 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
3.2field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Use of anti-amyloid-β monoclonal antibodies in persons with Down syndrome Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Review
  5. Article
  6. The Alzheimer's Biomarker Consortium-Down Syndrome (ABC-DS): A 10-year report.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  7. Risk of Alzheimer's disease in Down syndrome: Insights gained by multi-omics.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Review
  8. Review
  9. Article
  10. Review
  11. Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Article
  12. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 7 institutions in 4 countries.

Priyanka GorijalaDepartment of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.
M Muaaz AslamDepartment of Human Genetics, University of Pittsburgh, School of Public Health, Pittsburgh, Pennsylvania, USA.
Lam-Ha T DangDepartment of Epidemiology, Columbia University Irving Medical Center, New York, New York, USA.
L XicotaSergievsky Center, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, and Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Maria V FernandezDepartment of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.
Yun Ju SungDepartment of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.
Kang-Hsien FanDepartment of Human Genetics, University of Pittsburgh, School of Public Health, Pittsburgh, Pennsylvania, USA.
Eleanor FeingoldDepartment of Human Genetics, University of Pittsburgh, School of Public Health, Pittsburgh, Pennsylvania, USA.
Ezequiel I SuraceLaboratory of Neurodegenerative Diseases - Institute of Neurosciences (INEU-Fleni- CONICET), Buenos Aires, Argentina.
Jasmeer P ChhatwalMassachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Christy L HomDept. of Psychiatry and Human Behavior, University of California, Irvine School of Medicine, California, USA.
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
Sigan L HartleyWaisman Center and School of Human Ecology, University of Wisconsin- Madison, Madison, Wisconsin, USA.
Jason HassenstabDepartment of Neurology and Psychological & Brain Sciences, Washington University, St. Louis, Missouri, USA.
Richard J PerrinHope Center for Neurologic Diseases, Washington University, St. Louis, Missouri, USA.
Mark MapstoneDepartment of Neurology, University of California-Irvine, Irvine, California, USA.
Shahid H ZamanCambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Douglas House, Cambridge, UK.
Beau M AncesDepartment of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
M Ilyas KambohDepartment of Human Genetics, University of Pittsburgh, School of Public Health, Pittsburgh, Pennsylvania, USA.
Joseph H LeeDepartment of Epidemiology, Columbia University Irving Medical Center, New York, New York, USA.
Carlos CruchagaDepartment of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.ORCID 0000-0002-0276-2899
Washington University in St. Louis · USUniversity of Pittsburgh · USUniversity of California, Irvine · USColumbia University Irving Medical Center · USUniversity of Wisconsin–Madison · USConsejo Nacional de Investigaciones Científicas y Técnicas · ARHarvard University · US

Funding

University of Pittsburgh Clinical and Translational Science InstituteUL1TR001857 · NCATS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E · 2016 to 2025
$129.3M
Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0M
National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8M
Project 3: Biomarkers for DS Clinical TrialsU19AG068054 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI ANCES, BEAU M · 2020 to 2025
$103.7M
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0M
WU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8M
University of Wisconsin Institute for Clinical and Translational ResearchUL1TR002373 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI ELIZABETH S BURNSIDE, Allan R. Brasier · 2017 to 2026
$75.9M
Smartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI JOHN MORRIS · 1985 to 2026
$69.5M
Imaging CoreU19AG032438 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2010 to 2025
$53.9M
WASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI FAGAN, ANNE · 1985 to 2019
$52.1M
The natural history of AB accumulation in preclinical ADP01AG026276 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 2005 to 2025
$49.5M
Satellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3M
Alzheimer's Association SG-20-690363-DIANNCATS NIH HHS UL1 TR001414NCATS NIH HHS UL1 TR001857NCATS NIH HHS UL1 TR001873NCATS NIH HHS UL1 TR002345NCATS NIH HHS UL1 TR002373NIA NIH HHS P01 AG003991NIA NIH HHS P01 AG026276NIA NIH HHS P30 AG062421NIA NIH HHS P30 AG062715NIA NIH HHS P30 AG066444NIA NIH HHS P30 AG066519NIA NIH HHS P50 AG005133NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG008702NIA NIH HHS R01 AG044546NIA NIH HHS R01 AG064614NIA NIH HHS R01 AG064877NIA NIH HHS RF1 AG044546NIA NIH HHS RF1 AG053303NIA NIH HHS RF1 AG058501NIA NIH HHS RF1 AG071706NIA NIH HHS RF1 AG074007NIA NIH HHS U01 AG024904NIA NIH HHS U01 AG051406NIA NIH HHS U01 AG051412NIA NIH HHS U01 AG058922NIA NIH HHS U19 AG032438NIA NIH HHS U19 AG068054NIA NIH HHS U24 AG021886NIBIB NIH HHSNICHD NIH HHS P50 HD105353NICHD NIH HHS U54 HD087011NICHD NIH HHS U54 HD090256NIH HHS P01AG003991NIH HHS R01AG064877NIH HHS RF1AG053303NIH HHS RF1AG058501NIH HHS RF1AG074007NIH HHS U01 AG024904NIH HHS U01AG058922
6 · The paper itself

Abstract

introductionThis 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.

methodsAD polygenic risk scores (PRS) were tested for association with DS-related traits.

resultsThe 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, PRS 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.

Indexed as

Alzheimer DiseaseCognitive DysfunctionDown SyndromeAdultAmyloid beta-PeptidesApolipoproteins EBiomarkersCognitionGenetic Risk ScoreHumansMemory DisordersPhenotypeAmyloid beta-PeptidesApolipoproteins EBiomarkersamyloid 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 disease

Identifiers

PMID37855447
PMCPMC10916941
OpenAlexW4387764774

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.