Polygenic risk score predicts pathologically confirmed cerebral amyloid angiopathy.
| Title: | Polygenic risk score predicts pathologically confirmed cerebral amyloid angiopathy. |
|---|---|
| Authors: | Pyun JM; Department of Neurology, Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam-si, Gyeonggi-do, Republic of Korea.; Park YH; Department of Neurology, Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam-si, Gyeonggi-do, Republic of Korea.; Kim S; Department of Neurology, Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam-si, Gyeonggi-do, Republic of Korea.; Nho K; Department of Radiology and Imaging Sciences, and the Indiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Health Information and Translational Science Building, Indianapolis, Indiana, USA. |
| Corporate Authors: | Alzheimer's Disease Neuroimaging Initiative |
| Source: | Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2025 Dec; Vol. 21 (12), pp. e70958. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Language: | English |
| Journal Info: | Publisher: John Wiley & Sons, Ltd Country of Publication: United States NLM ID: 101231978 Publication Model: Print Cited Medium: Internet ISSN: 1552-5279 (Electronic) Linking ISSN: 15525260 NLM ISO Abbreviation: Alzheimers Dement Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2020- : Hoboken, NJ : John Wiley & Sons, Ltd.; Original Publication: Orlando, FL : Elsevier, Inc. |
| MeSH Terms: | Cerebral Amyloid Angiopathy*/genetics ; Cerebral Amyloid Angiopathy*/pathology ; Cerebral Amyloid Angiopathy*/diagnostic imaging ; Alzheimer Disease*/pathology ; Alzheimer Disease*/genetics ; Multifactorial Inheritance*; Brain/pathology ; Brain/diagnostic imaging ; Amyloid beta-Peptides/metabolism ; Humans ; Female ; Male ; Magnetic Resonance Imaging ; Aged ; Biomarkers ; Risk Factors ; Aged, 80 and over ; Genetic Risk Score |
| Abstract: | Introduction: Cerebral amyloid angiopathy (CAA) and Alzheimer's disease (AD) both involve amyloid beta (Aβ) accumulation in vessels and brain parenchyma, respectively. As Aβ-targeting therapies emerge, CAA draws attention due to its link with amyloid-related imaging abnormalities (ARIA), underscoring the need for biomarkers beyond magnetic resonance imaging (MRI).; Methods: CAA polygenic risk scores (CAA-PRS) were generated in 105 ADNI participants, and their predictive ability for pathological CAA was evaluated, including in subgroups with high amyloid burden or without MRI-visible CAA markers.; Results: CAA-PRS was significantly associated with pathological CAA (OR = 1.766, p |
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| Grant Information: | R01 AG081951 United States NH NIH HHS; U19 AG074879 United States NH NIH HHS; P30 AG010133 United States NH NIH HHS; P30 AG072976 United States NH NIH HHS; RS-2024-00461936 National Research Foundation of Korea (Ministry of Science and ICT); AACSFD-24-1310485 United States ALZ Alzheimer's Association; R01 LM012535 United States NH NIH HHS; P30 AG072976 United States AG NIA NIH HHS; U01 AG072177 United States NH NIH HHS |
| Contributed Indexing: | Keywords: Alzheimer's disease; cerebral amyloid angiopathy; high amyloid burden; neuropathology; polygenic risk score |
| Substance Nomenclature: | 0 (Biomarkers); 0 (Amyloid beta-Peptides) |
| Entry Date(s): | Date Created: 20251212 Date Completed: 20251212 Latest Revision: 20260521 |
| Update Code: | 20260521 |
| PubMed Central ID: | PMC12698935 |
| DOI: | 10.1002/alz.70958 |
| PMID: | 41383049 |
| Database: | MEDLINE |
Journal Article; Research Support, N.I.H., Extramural