The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

Nature Genetics

Volumn 39, Issue 2, 2007, Pages 168-177

  Rogaeva, Ekaterina ^a,b   Meng, Yan ^c,d   Lee, Joseph H ^e,f   Gu, Yongjun ^a,b   Kawarai, Toshitaka ^a,b   Zou, Fanggeng ^g,h   Katayama, Taiichi ^a,b   Baldwin, Clinton T ^c,d   Cheng, Rong ^e,f   Hasegawa, Hiroshi ^a,b   Chen, Fusheng ^a,b   Shibata, Nobuto ^a,b   Lunetta, Kathryn L ^c,d   Pardossi Piquard, Raphaelle ^a,b   Bohm, Christopher ^a,b   Wakutani, Yosuke ^a,b   Cupples, L Adrienne ^c,d   Cuenco, Karen T ^c,d   Green, Robert C ^c,d   Pinessi, Lorenzo ⁱ   Rainero, Innocenzo ⁱ   Sorbi, Sandro ^j   Bruni, Amalia ^k   Duara, Ranjan ^l,m   Friedland, Robert P ⁿ   Inzelberg, Rivka ^o   Hampe, Wolfgang ^p   Bujo, Hideaki ^q   Song, You Qiang ^r   Andersen, Olav M ^s   Willnow, Thomas E ^s   Graff Radford, Neill ^g   Petersen, Ronald C ^g   Dickson, Dennis ^g   Der, Sandy D ^a,b   Fraser, Paul E ^a,b   Schmitt Ulms, Gerold ^a,b   Younkin, Steven ^g   Mayeux, Richard ^e,f   Farrer, Lindsay A ^d,e   St George Hyslop, Peter ^a,b   more..

^a UNIVERSITY OF TORONTO   (Canada)

^b TORONTO WESTERN HOSPITAL   (Canada)

^c BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^e Columbia University ^*  (United States)

^f Mayo Clinic Jacksonville ^*  (United States)

^g MAYO GRADUATE SCHOOL   (United States)

^h MAYO CLINIC ROCHESTER   (United States)

ⁱ UNIVERSITY OF TURIN   (Italy)

^j UNIVERSITY OF FLORENCE   (Italy)

^k Regional Center of Neurogenetics   (Italy)

^l MOUNT SINAI MEDICAL CENTER   (United States)

^m UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

ⁿ CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^p UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^q CHIBA UNIVERSITY   (Japan)

^r UNIVERSITY OF HONG KONG   (Hong Kong)

^s MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; BRAIN RECEPTOR; SORTILIN RELATED RECEPTOR; UNCLASSIFIED DRUG;

ALZHEIMER DISEASE; ARTICLE; CELL SELECTION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE CLUSTER; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INTRON; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN TARGETING;

AGE OF ONSET; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; AMYLOID BETA-PROTEIN PRECURSOR; CELL LINE; ENDOSOMES; HAPLOTYPES; HUMANS; INTRONS; LDL-RECEPTOR RELATED PROTEINS; MEMBRANE TRANSPORT PROTEINS; MODELS, GENETIC; ORGAN SPECIFICITY; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CELL SURFACE; VARIATION (GENETICS); VESICULAR TRANSPORT PROTEINS;

EID: 33846613222     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1943     Document Type: Article

References (49)

1. Mattson, M.P. Pathways towards and away from Alzheimer's disease. Nature 430, 631-639 (2004).
2. Goate, A. et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer disease. Nature 349, 704-706 (1991).
3. Sherrington, R. et al. Cloning of a gene bearing missense mutations in early onset familial Alzheimer's disease. Nature 375, 754-760 (1995).
4. Rogaev, E.I. et al. Familial Alzheimer's disease in kindreds with missense mutations in a novel gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376, 775-778 (1995).
5. Saunders, A.M. et al. Association of apoliprotein E allele e4 with the late-onset familial and sporadic Alzheimer disease. Neurology 43, 1467-1472 (1993).
6. Bales, K.R. et al. Lack of apolipoprotein E dramatically reduces amyloid beta-peptide deposition. Nat. Genet. 17, 263-264 (1997).
7. Golde, T.E., Estus, S., Younkin, L.H., Selkoe, D.J. & Younkin, S.G. Processing of the amyloid protein precursor to potentially amyloidogenic derivatives. Science 255, 728-730 (1992).
8. Haass, C. & Selkoe, D.J. Cellular processing of beta-amyloid precursor protein and the genesis of amyloid beta-peptide. Cell 75, 1039-1042 (1993).
9. Bayer, T.A. et al. Key factors in Alzheimer's disease: beta-amyloid precursor protein processing, metabolism and intraneuronal transport. Brain Pathol. 11, 1-11 (2001).
10. Kinoshita, A. et al. Demonstration by FRET of BACE interaction with the amyloid precursor protein at the cell surface and in early endosomes. J. Cell Sci. 116, 3339-3346 (2003).
11. Vetrivel, K.S. et al. Spatial segregation of gamma -secretase and substrates in distinct membrane domains. J. Biol. Chem. 280, 25892-25900 (2005).
12. Scherzer, C.R. et al. Loss of apolipoprotein E receptor LR11 in Alzheimer disease. Arch. Neurol. 61, 1200-1205 (2004).
13. Small, S.A. et al. Model-guided microarray implicates the retromer complex in Alzheimer's disease. Ann. Neurol. 58, 909-919 (2005).
14. Andersen, O.M. et al. Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. Proc. Natl. Acad. Sci. USA 102, 13461-13466 (2005).
15. Offe, K. et al. The lipoprotein receptor LR11 regulates amyloid beta production and amyloid precursor protein traffic in endosomal compartments. J. Neurosci. 26, 1596-1603 (2006).
16. Pritchard, J.K. Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69, 124-137 (2001).
17. Pritchard, J.K. & Cox, N.J. The allelic architecture of human disease genes: common disease-common variantyor not? Hum. Mol. Genet. 11, 2417-2423 (2002).
18. Athan, E.S. et al. A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. J. Am. Med. Assoc. 286, 2257-2263 (2001).
19. Bowirrat, A., Treves, T.A., Friedland, R.P. & Korczyn, A.D. Prevalence of Alzheimer's type dementia in an elderly Arab population. Eur. J. Neurol. 8, 119-123 (2001).
20. Rogaeva, E.A. et al. An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer's disease. Nat. Genet. 22, 19-22 (1999).
21. Rogaeva, E. et al. Evidence for an Alzheimer disease susceptibility locus on chr 12, and for further locus heterogeneity. JAMA 280, 614-618 (1998).
22. Lee, J.H. et al. Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics. Mol. Psychiatry 9, 1042-1051 (2004).
23. Graff-Radford, N.R. et al. Association between apolipoprotein E genotype and Alzheimer disease in African American subjects. Arch. Neurol. 59, 594-600 (2002).
24. Green, R.C. et al. Risk of dementia among white and African American relatives of patients with Alzheimer disease. JAMA 287, 329-336 (2002).
25. Farrer, L.A. et al. Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab community. Hum. Mol. Genet. 12, 415-422 (2003).
26. Lin, S., Chakravarti, A. & Cutler, D.J. Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat. Genet. 36, 1181-1188 (2004).
27. Ertekin-Taner, N. et al. Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene. Hum. Mol. Genet. 14, 447-460 (2005).
28. Ertekin-Taner, N. et al. Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer disease. Hum. Mutat. 23, 334-342 (2004).
29. Dodson, S.E. et al. LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease. J. Neuropathol. Exp. Neurol. 65, 866-872 (2006).
30. Seaman, M.N. Recycle your receptors with retromer. Trends Cell Biol. 15, 68-75 (2005).
31. He, X., Li, F., Chang, W.P. & Tang, J. GGA proteins mediate the recycling pathway of memapsin 2 (BACE). J. Biol. Chem. 280, 11696-11703 (2005).
32. Farrer, L.A. et al. Effects of age, sex, and ethnicity on the asscoiation between apolipoprotein E genotype and Alzheimer's Disease. A meta-analysis. APOE and Alzheimer's Disease Meta Analysis Consortium. JAMA 278, 1349-1356 (1997).
33. Rabinowitz, D. & Laird, N. A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum. Hered. 50, 211-223 (2000).
34. Vermeire, S. & Rutgeerts, P. Current status of genetics research in inflammatory bowel disease. Genes Immun. 6, 637-645 (2005).
35. Owen, M.J., Craddock, N. & O'Donovan, M.C. Schizophrenia: genes at last? Trends Genet. 21, 518-525 (2005).
36. Horvath, S. et al. Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet. Epidemiol. 26, 61-69 (2004).
37. Lange, C., DeMeo, D., Silverman, E.K., Weiss, S.T. & Laird, N.M. PBAT: tools for family-based association studies. Am. J. Hum. Genet. 74, 367-369 (2004).
38. Lange, C., Silverman, E.K., Xu, X., Weiss, S.T. & Laird, N.M. A multivariate family-based association test using generalized estimating equations: FBAT-GEE. Biostatistics 4, 195-206 (2003).
39. Lange, C. & Laird, N.M. Power calculations for a general class of family-based association tests: dichotomous traits. Am. J. Hum. Genet. 71, 575-584 (2002).
40. Van Steen, K. et al. Genomic screening and replication using the same data set in family-based association testing. Nat. Genet. 37, 683-691 (2005).
41. Benjamini, Y. & Hochberg, Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J. R. Stat. Soc. B 57, 289-300 (1995).
42. Jannot, A.S., Essioux, L., Reese, M.G. & Clerget-Darpoux, F. Improved use of SNP information to detect the role of genes. Genet. Epidemiol. 25, 158-167 (2003).
43. Terwilliger, J.D. & Weiss, K.M. Linkage disequilibrium mapping of complex disease: fantasy or reality? Curr. Opin. Biotechnol. 9, 578-594 (1998).
44. Schaid, D.J., Rowland, C.M., Tines, D.E., Jacobson, R.M. & Poland, G.A. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am. J. Hum. Genet. 70, 425-434 (2002).
45. Chen, F. et al. Nicastrin binds to membrane-tethered Notch. Nat. Cell Biol. 3, 751-754 (2001).
46. Benjannet, S. et al. Post-translational processing of beta-secretase (beta-amyloid-converting enzyme) and its ectodomain shedding. The pro- and transmembrane/cytosolic domains affect its cellular activity and amyloid-beta production. J. Biol. Chem. 276, 10879-10887 (2001).
47. Yu, G. et al. A novel protein (nicastrin) modulates presenilin-mediated Notch/Glp1 and betaAPP processing. Nature 407, 48-54 (2000).
48. Gu, Y. et al. The presenilin proteins are components of multiple membrane-bound complexes which have different biological activities. J. Biol. Chem. 279, 31329-31336 (2004).
49. Hasegawa, H. et al. Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes. J. Biol. Chem. 279, 46455-46463 (2004).