The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
Open accessAbstract
The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid beta peptide (Abeta) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. These variants, which occur in at least two different clusters of intronic sequences within the SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1. We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into Abeta-generating compartments. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.
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SORL1 was identified through GWAS as a risk factor for sporadic AD.
“SORL1 was identified through GWAS as a risk factor for sporadic AD (495, 503).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [503]
The Results section reports an association between SORL1 variants and late-onset AD, and the Discussion describes a modest effect on AD risk. But the Results describe screening SNPs in seven selected genes, initially in familial AD datasets—not identifying SORL1 through a genome-wide association study (GWAS). No page numbers are available in our copy. (LLM, conf=0.91)
Experimental — accuracy not yet measuredLR11/SorLA variants are genetically associated with AD.
“Genetic association of LR11/SorLA variants with AD further corroborates its mechanistic link to AD pathogenesis (Rogaeva et al., 2007).”
From The role of apolipoprotein E in Alzheimer's disease (2009) · cites this paper as Rogaeva et al., 2007
The genetic association of LR11/SorLA variants with AD corroborates its mechanistic link to AD pathogenesis.
“Genetic association of LR11/SorLA variants with AD further corroborates its mechanistic link to AD pathogenesis (Rogaeva et al., 2007).”
From The role of apolipoprotein E in Alzheimer's disease (2009) · cites this paper as Rogaeva et al., 2007
Overexpression of SORLA in neuronal cells blocks amyloidogenic processing and reduces Aβ production, whereas loss of SORLA increases extracellular Aβ levels and plaque deposition in several AD mouse models.
“Overexpression of SORLA in neuronal cells can block amyloidogenic processing and reduce Aβ production [485], whereas loss of SORLA increased extracellular Aβ levels and plaque deposition in several AD mouse models [486, 487].”
From Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease (2020) · cites this paper as [485]
SORL1 is a sorting receptor located in neurons, astrocytes, and microglia and is known to direct APP toward non-amyloidogenic processing in the trans-Golgi network.
“SORL1, a sorting receptor located in neurons [152], astrocytes, and microglia [153] is known to direct APP toward non-amyloidogenic processing in the trans-Golgi network [148, 154].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [154]
SORL1 is a neuronal endocytic receptor that regulates the recycling of APP from the cell surface.
“SORL1 (3,285 ga, ~82 kya) is a neuronal endocytic receptor that regulates the recycling of APP from the cell surface 46 .”
From A Chronological Atlas of Natural Selection in the Human Genome during the Past Half-million Years (2015) · cites this paper as [46]
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“Nevertheless, their signi fi cance in normal brain function and implications in neurodegenerative disorders are hinted at by altered expressions (Faghihi et al, 2008; Mus et al, 2007; Rogaeva et al, 2007).”
Mitochondrial Function and Neurodegenerative Diseases
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- Authors
- Rogaeva, E., Meng, Y., Lee, J. H., Gu, Y., Kawarai, T., Zou, F., Katayama, T., Baldwin, C. T., Cheng, R., Hasegawa, H., Chen, F., Shibata, N., Lunetta, K. L., Pardossi-Piquard, R., Bohm, C., Wakutani, Y., Cupples, L. A., Cuenco, K. T., Green, R. C., Pinessi, L., Rainero, I., Sorbi, S., Bruni, A., Duara, R., Friedland, R. P., Inzelberg, R., Hampe, W., Bujo, H., Song, Y.-Q., Andersen, O. M., Willnow, T. E., Graff-Radford, N., Petersen, R. C., Dickson, D., Der, S. D., Fraser, P. E., Schmitt-Ulms, G., Younkin, S., Mayeux, R., Farrer, L. A., & St George-Hyslop, P.
- Affiliations
- University of Toronto (CA)
- Boston University (US)
- Columbia University (US)
- Mayo Clinic (US)
- University of Turin (IT)
- University of Florence (IT)
- University of Miami (US)
- Case Western Reserve University (US)
- Technion – Israel Institute of Technology (IL)
- University Medical Center Hamburg-Eppendorf (DE)
- Chiba University (JP)
- University of Hong Kong (HK)
- Max Delbrück Center (DE)
- Corresponding author
- Mayeux, Richard
- Farrer, Lindsay A
- ORCID
- Rogaeva, Ekaterina
- Meng, Yan
- Lee, Joseph H
- Kawarai, Toshitaka
- Katayama, Taiichi
- Cheng, Rong
- Chen, Fusheng
- Shibata, Nobuto
- Lunetta, Kathryn L
- Cupples, L Adrienne
- Green, Robert C
- Pinessi, Lorenzo
- Rainero, Innocenzo
- Sorbi, Sandro
- Bruni, Amalia
- Duara, Ranjan
- Friedland, Robert P
- Inzelberg, Rivka
- Hampe, Wolfgang
- Song, You-Qiang
- Andersen, Olav M
- Willnow, Thomas E
- Petersen, Ronald C
- Dickson, Dennis
- Mayeux, Richard
- Farrer, Lindsay A
- Venue
- Nature Genetics
- Published
- 2007-01-14
- Volume
- 39
- Issue
- 2
- Pages
- 168-177
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2657343
- OpenAlex
- W2058880763
- Cited by
- 1,167
- References
- 50
- Citations by year
- 2026: 24 · 2025: 41 · 2024: 46 · 2023: 39 · 2022: 36 · 2021: 54 · 2020: 50 · 2019: 46 · 2018: 53 · 2017: 58 · 2016: 71 · 2015: 50 · 2014: 71 · 2013: 55 · 2012: 85
- FWCI
- 71.23
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- MDC Repository (Max-Delbrueck-Center for Molecular Medicine) (submittedVersion)
- Florence Research (University of Florence) (submittedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Funders
- National Institutes of Health (5r37ag015473-15)
- National Institute on Aging (R01-HG/AG-02213, P50‐AG16574, R37AG15473, U01AG06786, P01AG007232, R37-AG015473, U01AG006786, P01AG07232, P30AG013846, R01AG009029, R01AG017173, R01 AG09029, P30-AG13846), P50AG016574)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- SORL1, Alzheimer's disease, late-onset Alzheimer's disease, amyloid precursor protein, amyloid-beta, endocytic pathway, genetic association, intronic variants, tissue-specific gene expression, APP trafficking
- MeSH terms
- Alzheimer Disease, Cell Line, Haplotypes, Humans, Introns, Models, Genetic, Organ Specificity, Receptors, Cell Surface, Endosomes, Genetic Variation, Amyloid beta-Peptides, Amyloid beta-Protein Precursor, Age of Onset, Polymorphism, Single Nucleotide, LDL-Receptor Related Proteins, Membrane Transport Proteins, Vesicular Transport Proteins, Protease Nexins
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