Alzheimer’s disease: analyzing the missing heritability
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Alzheimer's disease (AD) is a complex disorder influenced by environmental and genetic factors. Recent work has identified 11 AD markers in 10 loci. We used Genome-wide Complex Trait Analysis to analyze >2 million SNPs for 10,922 individuals from the Alzheimer's Disease Genetics Consortium to assess the phenotypic variance explained first by known late-onset AD loci, and then by all SNPs in the Alzheimer's Disease Genetics Consortium dataset. In all, 33% of total phenotypic variance is explained by all common SNPs. APOE alone explained 6% and other known markers 2%, meaning more than 25% of phenotypic variance remains unexplained by known markers, but is tagged by common SNPs included on genotyping arrays or imputed with HapMap genotypes. Novel AD markers that explain large amounts of phenotypic variance are likely to be rare and unidentifiable using genome-wide association studies. Based on our findings and the current direction of human genetics research, we suggest specific study designs for future studies to identify the remaining heritability of Alzheimer's disease.
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Variation at the APOE locus is estimated to explain only a portion of the heritability of LOAD.
“variation at this locus is estimated to explain only a portion of the heritability of LOAD [76]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [76]
Common variants identified by GWAS explain only 30% of the heritability of AD.
“Interestingly, estimates suggest common variants identified by GWAS explain only 30% of the heritability of AD [76]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [76]
Current estimates suggest only about 30-40% of the heritability of AD is explained by identified GWAS variants, leaving over 25% of the variance unexplained by known genetic factors.
“Current estimates suggest only about 30–40% of the heritability of AD is explained by identified GWAS variants, leaving over 25% of the variance unexplained by known genetic factors [76]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [76]
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- Authors
- Ridge, P. G., Mukherjee, S., Crane, P. K., Kauwe, J. S. K., & Alzheimer’s Disease Genetics Consortium
- Affiliations
- Brigham Young University (US)
- University of Washington (US)
- Corresponding author
- Kauwe, John S. K.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2013-11-07
- Volume
- 8
- Issue
- 11
- Pages
- e79771
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3820606
- OpenAlex
- W2010192073
- Cited by
- 328
- References
- 64
- Citations by year
- 2026: 8 · 2025: 13 · 2024: 18 · 2023: 60 · 2022: 26 · 2021: 31 · 2020: 29 · 2019: 24 · 2018: 29 · 2017: 26 · 2016: 30 · 2015: 22 · 2014: 12
- FWCI
- 14.70
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Howard Hughes Medical Institute
- U.S. Department of Veterans Affairs (U01 AG024904)
- Alzheimer's Association (IIRG-05–14147, K01 AG030514, U01 AG016976, R01AG042611, U01 AG032984, IIRG-08-89720, U01 AG024904, U24AG021886, MNIRG-11-205368)
- Dana Foundation (K01 AG030514, U01 AG024904)
- Bristol-Myers Squibb (U01 AG024904, AG024904)
- Eli Lilly and Company (U01 AG024904, AG024904)
- Pfizer (AG024904, U01 AG024904)
- AstraZeneca
- GlaxoSmithKline
- Novartis
- Office of Research and Development
- Brigham Young University (MNIRG-11-205368, R01AG042611)
- University of Pennsylvania (U24 AG026395, U24 AG026390)
- F. Hoffmann-La Roche (AG024904, U01 AG024904)
- Medpace (U01 AG024904)
- Synarc (U01 AG024904, K01 AG030514)
- Northern California Institute for Research and Education (U01 AG024904, K01 AG030514)
- Wellcome Trust
- Alzheimer's Research Trust
- Newcastle University
- Stichting MS Research
- Elan (U01 AG024904)
- Eisai (U01 AG024904, AG024904)
- North Bristol NHS Trust
- Universitat de Barcelona
- Hersenstichting
- National Institutes of Health (5rc2ag036502-02, MNIRG-11-205368, 5r01ag027944-05, 5u01ag024904-10, 7r01ag019757-06, 5r37ag015473-15, AG016976, U01-AG024904, AG024904, MH60451)
- Genentech (AG024904, U01 AG024904)
- Canadian Institutes of Health Research
- Medical Research Council (U01 AG024904, K01 AG030514)
- National Institute on Aging (U01-AG-024904, R01AG017917, AG 10483, P01AG010491, P50 AG016575, AG 016976, AG05 128, P30AG010129, P30AG010133, R01AG019085, P50AG005144, R01AG042611, P50 AG016576, R01AG030146, AG021547, AG036535, AG010491, AG-05144, U24 AG026390, P30AG028383, P30AG012300, AG 025688, P50AG016577, P50AG005133, R01-AG027944, AG 024904, AG 030,514, AG-034504, P30AG028377, U01AG006781, U01AG016976, P50AG005131, R01-AG019757, R01AG034504, R37-AG015473, P50AG005138, R01AG026390, R01AG022374, P50AG016570, AG019610, K01AG030514, R01AG040770, AG036528, P50AG005128, P30AG010124, P50AG016573, AG019757, R01AG021547, R01AG041232, R01AG030653, U01AG010483, R01AG015819, P30AG008017, P30AG010161, U01AG032984, R01AG012101, R01AG031581, P30AG008051, R01AG041797, RC2-AG036502, P50AG016582, P50AG008702, AG032984, AG013846, P50AG005681, P50AG005142, P50AG008671, P30AG019610, R01AG026916, P50AG005146, P01AG003991, 1RC2AG036502, U24AG026395, P30AG013846, P50AG005136, P50AG005134, RC2AG036535, P30AG013854, R01AG025259, P50AG025688, AG026395, R01AG017173, RC2AG036528, R01AG033193, P01AG002219, AG021886, R01AG013616, U24AG056270, P01AG019724, U24AG021886, P30AG062421, P50AG023501, AG027944, R01AG020688, AG 030653, P50AG016574, R01AG035137, UO1-AG06781)
- National Institute of Mental Health (U01 AG024904, MH60451, R01MH080295, P50MH060451)
- National Human Genome Research Institute (UO1 HG004610, U01HG004610, U01HG006375)
- National Cancer Institute (R01CA129769, U54CA137788, U54CA132378)
- National Institute of Neurological Disorders and Stroke (NS3 9764, R01NS080820, R01NS059873, MH60451, NIMH MH60451, P50NS039764)
- National Institute of Biomedical Imaging and Bioengineering (U01 AG024904, AG024904)
- National Center for Research Resources (MO1 RR000-96, UL1RR02777, UL1RR029893, M01RR000096, M01RR000645)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- Alzheimer's disease, missing heritability, phenotypic variance explained, GCTA, common SNPs, apolipoprotein E, genetic markers
- MeSH terms
- Aged, Alzheimer Disease, Apolipoproteins E, Female, Genetic Markers, Humans, Male, Case-Control Studies, Age of Onset, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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