Genome-wide association study of the rate of cognitive decline in Alzheimer’s disease
Open accessAbstract
Background: Substantial interindividual variability exists in the disease trajectories of Alzheimer's disease (AD) patients. Some decline rapidly whereas others decline slowly, and there are no known explanations for this variability. We describe the first genome‐wide association study to examine rate of cognitive decline in a sample of AD patients with longitudinal measures of cognition. Methods: The discovery sample was 303 AD cases recruited in the Alzheimer's Disease Neuroimaging Initiative and the replication sample was 323 AD cases from the Religious Orders Study and Rush Memory and Aging Project. In the discovery sample, Alzheimer's Disease Assessment Scale–cognitive subscale responses were tested for association with genome‐wide single‐nucleotide polymorphism (SNP) data using linear regression. We tested the 65 most significant SNPs from the discovery sample for association in the replication sample. Results: We identified SNPs in the spondin 1 gene ( SPON1 ), the minor alleles of which were significantly associated with a slower rate of decline (rs11023139, P = 7.0 × 10 −11 ) in the discovery sample. A SPON1 SNP 5.5 kb upstream was associated with decline in the replication sample (rs11606345, P = .002). Conclusion: SPON1 has not been previously associated with AD risk, but is plausibly related because the gene product binds to the amyloid precursor protein and inhibits its cleavage by β‐secretase. These data suggest that SPON1 may be associated with the differential rate of cognitive decline in AD.
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Loci reaching GWAS and nominal significance and SNPs in LD with them at D' ≥ 0.8 show predominant associations with traits such as cognitive decline, educational attainment, mean bone density, intelligence and performance intelligence quotient, and soluble TREM-2 levels.
“Analysis of loci that reach GWAS and nominal significance and SNPs in LD with them at D’ ≥ 0.8 reveals predominant associations with traits such as cognitive decline [12, 68, 69], educational attainment [70–73], mean bone density [57, 74], intelligence and performance intelligence quotient [75, 76] and soluble TREM-2 levels [77].”
From Genetic drivers of progression in Alzheimer’s disease are distinct from disease risk (2026) · cites this paper as [12]
Genome-wide analyses have often been confounded by the absence of disease confirmatory biomarkers such as amyloid, which is critical given the high rate of clinical misdiagnosis.
“Lastly, genome wide analyses have often been confounded by the absence of disease confirmatory biomarkers such as amyloid, which is critical given the high rate of clinical misdiagnosis[12–14].”
From Genetic drivers of progression in Alzheimer’s disease are distinct from disease risk (2026) · cites this paper as [12]
The Methods (Discovery Sample; page unavailable) describe biomarker collection in ADNI and define baseline by clinical AD diagnosis. The Discussion (page unavailable) identifies other study limitations, but neither passage says that missing confirmatory biomarkers often confound genome-wide analyses or that clinical misdiagnosis is common. Searches for those points found no supporting passage in our copy. (LLM, conf=0.72)
Experimental — accuracy not yet measuredAPOE and APP are among the most significant genetic risk factors for AD.
“In addition, we found the APOE and APP subnetwork within the vesicle mediated transport pathway which are among the most significant genetic risk factors for AD (Figure 5F).46,47,48”
From SCING: Inference of robust, interpretable gene regulatory networks from single cell and spatial transcriptomics (2023) · cites this paper as [48]
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A Blood Test for Alzheimer’s Disease: Progress, Challenges, and Recommendations
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A missense variant in SHARPIN mediates Alzheimer’s disease-specific brain damages
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Self-citationAssociation study of genetic markers of schizophrenia and its cognitive endophenotypes
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- Authors
- Sherva, R., Tripodis, Y., Bennett, D. A., Chibnik, L. B., Crane, P. K., de Jager, P. L., Farrer, L. A., Saykin, A. J., Shulman, J. M., Naj, A., Green, R. C., & The GENAROAD Consortium, T. A. D. N. I.
- Affiliations
- Boston University (US)
- Department of Medicine (Biomedical Genetics) Boston University School of Medicine Boston MA USA
- Corresponding author
- Sherva, Richard
- ORCID
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2013-03-26
- Volume
- 10
- Issue
- 1
- Pages
- 45-52
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- PMC
- PMC3760995
- OpenAlex
- W2034937783
- Cited by
- 180
- References
- 34
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 23 · 2023: 18 · 2022: 15 · 2021: 15 · 2020: 18 · 2019: 12 · 2018: 14 · 2017: 15 · 2016: 11 · 2015: 11 · 2014: 14 · 2013: 3 · 2012: 1
- FWCI
- 9.21
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Alzheimer s & Dementia (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (U01 AG024904)
- National Institute on Aging
- National Institute of Biomedical Imaging and Bioengineering
- Dana Foundation (HG02213, AG027841)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Cognition Disorders, Female, Follow-Up Studies, Genotype, Humans, Male, Neuropsychological Tests, Phenotype, Extracellular Matrix Proteins, Polymorphism, Single Nucleotide, Apolipoprotein E4, Genome-Wide Association Study
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