Genome-wide association analysis of age-at-onset in Alzheimer's disease
Open accessAbstract
The risk of Alzheimer's disease (AD) is strongly determined by genetic factors and recent genome-wide association studies (GWAS) have identified several genes for the disease risk. In addition to the disease risk, age-at-onset (AAO) of AD has also strong genetic component with an estimated heritability of 42%. Identification of AAO genes may help to understand the biological mechanisms that regulate the onset of the disease. Here we report the first GWAS focused on identifying genes for the AAO of AD. We performed a genome-wide meta-analysis on three samples comprising a total of 2222 AD cases. A total of ~2.5 million directly genotyped or imputed single-nucleotide polymorphisms (SNPs) were analyzed in relation to AAO of AD. As expected, the most significant associations were observed in the apolipoprotein E (APOE) region on chromosome 19 where several SNPs surpassed the conservative genome-wide significant threshold (P<5E-08). The most significant SNP outside the APOE region was located in the DCHS2 gene on chromosome 4q31.3 (rs1466662; P=4.95E-07). There were 19 additional significant SNPs in this region at P<1E-04 and the DCHS2 gene is expressed in the cerebral cortex and thus is a potential candidate for affecting AAO in AD. These findings need to be confirmed in additional well-powered samples.
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Few studies have investigated the genetic basis of age at onset of AD.
“For example, few studies6,7 have investigated the genetic basis of age at onset of AD (AAO).”
From A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease (2017) · cites this paper as [7]
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A Common Haplotype Lowers PU.1 Expression in Myeloid Cells and Delays Onset of Alzheimer's Disease
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Genetic Architectures Underlie Onset Age of Atopic Dermatitis
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Genome‐wide association and replication studies for handedness in a Korean community‐based cohort
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Case-control studies of gene-environment interactions. When a case might not be the case
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- Authors
- Kamboh, M. I., Barmada, M. M., Demirci, F. Y., Minster, R. L., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Saykin, A. J., Initiative, T. A. D. N., Sweet, R. A., Feingold, E., DeKosky, S. T., & Lopez, O. L.
- Affiliations
- University of Pittsburgh (US)
- Mayo Clinic (US)
- Indiana University Indianapolis (US)
- Corresponding author
- Kamboh, M I
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2011-10-18
- Volume
- 17
- Issue
- 12
- Pages
- 1340-1346
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC3262952
- OpenAlex
- W2059835894
- Cited by
- 100
- References
- 33
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 3 · 2023: 8 · 2022: 5 · 2021: 10 · 2020: 4 · 2019: 4 · 2018: 10 · 2017: 7 · 2016: 9 · 2015: 9 · 2014: 9 · 2013: 8 · 2012: 5
- FWCI
- 5.02
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Funders
- Alzheimer's Association (AG010129, U01 AG024904, U24AG021886)
- Bristol-Myers Squibb (U01 AG024904, AG024904)
- Eli Lilly and Company (U01 AG024904, AG024904)
- Pfizer (AG024904, U01 AG024904)
- AstraZeneca
- GlaxoSmithKline
- Novartis
- F. Hoffmann-La Roche (AG024904, U01 AG024904)
- Medpace (U01 AG024904)
- Synarc (U01 AG024904, P30 AG010129, K01 AG030514)
- Alzheimer's Disease Neuroimaging Initiative (U01AG024904, AG024904, P30 AG010129, K01 AG030514)
- Northern California Institute for Research and Education (U01 AG024904, K01 AG030514, P30 AG010129)
- Elan (U01 AG024904)
- Eisai (U01 AG024904, AG024904)
- National Institutes of Health (5u01ag024904-10, U01-AG024904, AG005133, AG010129, AG024904, AG030653, AG021886)
- U.S. Food and Drug Administration
- Genentech (AG024904, U01 AG024904)
- University of California, Los Angeles
- University of California, San Diego
- National Institute on Aging (U01-AG-024904, AG 10133, P30AG010129, P30AG010133, AG036535, R01 AG19771, AG027224, AG-005133, R01AG018023, P50AG005133, AG 024904, AG19771, K01AG030514, AG010129, R01AG030653, R01AG027224, R01AG019771, RC2AG036535, AG18023, AG021886, P30 AG-10133, U24AG021886, AG 030653)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, age of onset, genetic susceptibility, apolipoprotein E, single nucleotide polymorphisms, heritability, cerebral cortex
- MeSH terms
- Aged, Alzheimer Disease, Apolipoproteins E, Female, Humans, Male, Cadherins, Age of Onset, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study
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