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The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy

Holstege, Henne, van der Lee, Sven J, Hulsman, Marc, Wong, Tsz Hang, van Rooij, Jeroen GJ, Weiss, Marjan, Louwersheimer, Eva, Wolters, Frank J, Amin, Najaf, Uitterlinden, André G, Hofman, Albert, Ikram, M Arfan, van Swieten, John C, Meijers-Heijboer, Hanne, van der Flier, Wiesje M, Reinders, Marcel JT, van Duijn, Cornelia M, Scheltens, Philip·2017·European Journal of Human Genetics
DOI 10.1038/ejhg.2017.87PMC PMC5567154
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Crossref · 10.1038/ejhg.2017.87

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  • Subsequent studies have further demonstrated the association of SORL1 coding variants with late onset AD.

    “Subsequent studies have further demonstrated the association of SORL1 coding variants with late onset AD (Vardarajan, Zhang et al. 2015, Cuccaro, Carney et al. 2016, Holstege, van der Lee et al. 2017, Louwersheimer, Cohn-Hokke et al. 2017).”

    From SORLA up-regulation suppresses pathological effects in aged tauopathy mouse brain (2026) · cites this paper as Holstege, van der Lee et al. 2017

    The Results (Combined analysis) show that rare, strongly damaging SORL1 variants are associated with increased AD risk. However, the paper does not establish that association specifically for late-onset AD: the Methods (Samples) describe a mixed-onset discovery sample and an early-onset replication sample. The Introduction mentions late-onset AD in discussing earlier studies, rather than as a separate finding of this study. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

  • The inverse correlation between odds ratios and variant frequency found in case-control studies is consistent with the observed inverse correlation between variant frequency and measured effect.

    “This is consistent with the inverse correlation between odds ratios and variant frequency found in case–control studies [24, 27].”

    From Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease (2021) · cites this paper as [27]

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Citations

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Research works printed but not linked: 32

  1. Gatz M, Reynolds CA, Fratiglioni L et al: Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 2006; 63: 168–174. · DOI · Paper page
  2. Pottier C, Hannequin D, Coutant S et al: High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 2012; 17: 875–879. · DOI · Paper page
  3. Vardarajan BN, Zhang Y, Lee JH et al: Coding mutations in SORL1 and Alzheimer disease. Ann Neurol 2015; 77: 215–227. · DOI · Paper page
  4. Nicolas G, Charbonnier C, Wallon D et al: SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease. Mol Psychiatry 2015; 21: 831–836. · DOI · Paper page
  5. Verheijen J, Van den Bossche T, van der Zee J et al: A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease. Acta Neuropathol 2016; 132: 213–224. · DOI · Paper page
  6. Andersen OM, Rudolph IM, Willnow TE : Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease. Acta Neuropathol 2016; 132: 653–665. · DOI · Paper page
  7. Willnow TE, Andersen OM : Sorting receptor SORLA—a trafficking path to avoid Alzheimer disease. J Cell Sci 2013; 126: 2751–2760. · DOI · Paper page
  8. Mehmedbasic A, Christensen SK, Nilsson J et al: SorLA complement-type repeat domains protect the amyloid precursor protein against processing. J Biol Chem 2015; 290: 3359–3376. · DOI
  9. Hermey G : The Vps10p-domain receptor family. Cell Mol Life Sci 2009; 66: 2677–2689. · DOI
  10. Caglayan S, Takagi-Niidome S, Liao F et al: Lysosomal sorting of amyloid-beta by the SORLA receptor is impaired by a familial Alzheimer's disease mutation. Sci Transl Med 2014; 6: 223ra220. · DOI · Paper page
  11. Scherzer CR, Offe K, Gearing M et al: Loss of apolipoprotein E receptor LR11 in Alzheimer disease. Arch Neurol 2004; 61: 1200–1205. · DOI · Paper page
  12. Andersen OM, Reiche J, Schmidt V et al: Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. Proc Natl Acad Sci USA 2005; 102: 13461–13466. · DOI · Paper page
  13. Offe K, Dodson SE, Shoemaker JT et al: The lipoprotein receptor LR11 regulates amyloid beta production and amyloid precursor protein traffic in endosomal compartments. J Neurosci 2006; 26: 1596–1603. · DOI · Paper page
  14. Spoelgen R, von Arnim CA, Thomas AV et al: Interaction of the cytosolic domains of sorLA/LR11 with the amyloid precursor protein (APP) and beta-secretase beta-site APP-cleaving enzyme. J Neurosci 2006; 26: 418–428. · DOI · Paper page
  15. Rogaeva E, Meng Y, Lee JH et al: The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007; 39: 168–177. · DOI · Paper page
  16. Bettens K, Brouwers N, Engelborghs S, De Deyn PP, Van Broeckhoven C, Sleegers K : SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population. Hum Mutat 2008; 29: 769–770. · DOI
  17. Caglayan S, Bauerfeind A, Schmidt V et al: Identification of Alzheimer disease risk genotype that predicts efficiency of SORL1 expression in the brain. Arch Neurol 2012; 69: 373–379. · DOI
  18. Tan EK, Lee J, Chen CP, Teo YY, Zhao Y, Lee WL : SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese. Neurobiol Aging 2009; 30: 1048–1051. · DOI
  19. Kimura R, Yamamoto M, Morihara T et al: SORL1 is genetically associated with Alzheimer disease in a Japanese population. Neurosci Lett 2009; 461: 177–180. · DOI
  20. Liu F, Ikram MA, Janssens AC et al: A study of the SORL1 gene in Alzheimer's disease and cognitive function. J Alzheimer's Dis 2009; 18: 51–64. · DOI
  21. Reitz C, Cheng R, Rogaeva E et al: Meta-analysis of the association between variants in SORL1 and Alzheimer disease. Arch Neurol 2011; 68: 99–106. · DOI · Paper page
  22. Van Cauwenberghe C, Van Broeckhoven C, Sleegers K : The genetic landscape of Alzheimer disease: clinical implications and perspectives. Genet Med 2016; 18: 421–430. · DOI · Paper page
  23. Corder EH, Saunders AM, Strittmatter WJ et al: Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993; 261: 921–923. · DOI · Paper page
  24. Schellenberg GD, Bird TD, Wijsman EM et al: Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 1992; 258: 668–671. · DOI
  25. Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J : A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014; 46: 310–315. · DOI · Paper page
  26. Hofman A, Brusselle GG, Darwish Murad S et al: The Rotterdam Study: 2016 objectives and design update. Eur J Epidemiol 2015; 30: 661–708. · DOI
  27. van der Flier WM, Pijnenburg YA, Prins N et al: Optimizing patient care and research: the Amsterdam Dementia Cohort. J Alzheimers Dis 2014; 41: 313–327. · DOI
  28. McLaren W, Gil L, Hunt SE et al: The Ensembl variant effect predictor. Genome Biol 2016; 17: 122. · DOI · Paper page
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  30. Louwersheimer E, Cohn-Hokke PE, Pijnenburg YA et al: Rare genetic variant in SORL1 may increase penetrance of Alzheimer's disease in a family with several generations of APOE-varepsilon4 homozygosity. J Alzheimer's Dis 2017; 56: 63–74. · DOI
  31. Nelson MR, Wegmann D, Ehm MG et al: An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 2012; 337: 100–104. · DOI · Paper page
  32. Fu W, O'Connor TD, Jun G et al: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 2013; 493: 216–220. · DOI

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Metadata

Authors
Holstege, H., van der Lee, S. J., Hulsman, M., Wong, T. H., van Rooij, J. G., Weiss, M., Louwersheimer, E., Wolters, F. J., Amin, N., Uitterlinden, A. G., Hofman, A., Ikram, M. A., van Swieten, J. C., Meijers-Heijboer, H., van der Flier, W. M., Reinders, M. J., van Duijn, C. M., & Scheltens, P.
ORCID
van der Lee, Sven J
Venue
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2017-05-24
Volume
25
Issue
8
Pages
973-981
ISSN
  • 1018-4813
  • 1476-5438
DOI
10.1038/ejhg.2017.87
PMC
PMC5567154
Cited by
140
References
7
Language
en
Licence
creativecommons.org/licenses/by-nc-sa/4.0 (tdm)

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