SORL1 is genetically associated with neuropathologically characterized late-onset Alzheimer's disease

Journal of Alzheimer's Disease

Volumn 35, Issue 2, 2013, Pages 387-394

  Wen, Yanan ^a   Miyashita, Akinori ^a   Kitamura, Nobutaka ^a   Tsukie, Tamao ^b   Saito, Yuko ^c   Hatsuta, Hiroyuki ^d   Murayama, Shigeo ^d   Kakita, Akiyoshi ^a   Takahashi, Hitoshi ^a   Akatsu, Hiroyasu ^e   Yamamoto, Takayuki ^e   Kosaka, Kenji ^f   Yamaguchi, Haruyasu ^g   Akazawa, Kohei ^a   Ihara, Yasuo ^h   Kuwano, Ryozo ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b Research Association for Biotechnology   (Japan)

^c National Center Hospital of Neurology and Psychiatry   (Japan)

^d Tokyo Metropolitan Institute of Gerontology   (Japan)

^e Fukushimura Hospital   (Japan)

^f Hoyu Hospital   (Japan)

^g GUNMA UNIVERSITY   (Japan)

^h DOSHISHA UNIVERSITY   (Japan)

Author keywords

Alzheimer's disease; association; neuropathology; single nucleotide polymorphism; SORL1

Indexed keywords

APOLIPOPROTEIN E4; BRAIN PROTEIN; SORTILIN RELATED RECEPTOR L(DRL CLASS) A REPEAT CONTAINING; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; JAPANESE; MALE; NEUROPATHOLOGY; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84877110024     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-122395     Document Type: Article

References (45)

1. AndersenOM,Reiche J, SchmidtV, Gotthardt M, Spoelgen R, Behlke J, von Arnim CA, BreiderhoffT, Jansen P,Wu X, Bales KR, Cappai R, Masters CL, Gliemann J, Mufson EJ, Hyman BT, Paul SM, Nykjaer A,WillnowTE(2005) Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. Proc Natl Acad Sci U S A 102, 13461-13466.
2. Andersen OM, Schmidt V, Spoelgen R, Gliemann J, Behlke J, Galatis D, McKinstry WJ, Parker MW, Masters CL, Hyman BT, Cappai R, Willnow TE (2006) Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA/LR11. Biochemistry 45, 2618-2628.
3. Offe K, Dodson SE, Shoemaker JT, Fritz JJ, Gearing M, Levey AI, Lah JJ (2006) The lipoprotein receptor LR11 regulates amyloid beta production and amyloid precursor protein traffic in endosomal compartments. J Neurosci 26, 1596-1603.
4. Fjorback AW, Seaman M, Gustafsen C, Mehmedbasic A, Gokool S,Wu C, Militz D, Schmidt V, Madsen P, Nyengaard JR, Willnow TE, Christensen EI, Mobley WB, Nykjær A, Andersen OM (2012) Retromer binds the FANSHY sorting motif in SorLA to regulate amyloid precursor protein sorting and processing. J Neurosci 32, 1467-1480.
5. Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C,WakutaniY, Cupples LA, CuencoKT, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland RP, Inzelberg R, Hampe W, Bujo H, Song YQ, Andersen OM, Willnow TE, Graff-Radford N, Petersen RC, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P (2007) The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 39, 168-177.
6. Scherzer CR, Offe K, Gearing M, Rees HD, Fang G, Heilman CJ, Schaller C, Bujo H, Levey AI, Lah JJ (2004) Loss of apolipoprotein E receptor LR11 in Alzheimer disease. Arch Neurol 61, 1200-1205.
7. Dodson SE, Gearing M, Lippa CF, Montine TJ, Levey AI, Lah JJ (2006) LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease. J Neuropathol Exp Neurol 65, 866-872.
8. Sager KL,Wuu J, Leurgans SE, Rees HD, Gearing M, Mufson EJ, Levey AI, Lah JJ (2007) Neuronal LR11/sorLA expression is reduced in mild cognitive impairment. Ann Neurol 62, 640-647.
9. Ma QL, Galasko DR, Ringman JM, Vinters HV, Edland SD, Pomakian J, Ubeda OJ, Rosario ER, Teter B, Frautschy SA, Cole GM (2009) Reduction of SorLA/LR11, a sorting protein limiting beta-Amyloid production, in Alzheimer disease cerebrospinal fluid. Arch Neurol 66, 448-457.
10. Ikeuchi T, Hirayama S, Miida T, Fukamachi I, Tokutake T, Ebinuma H, Takubo K, Kaneko H, Kasuga K, Kakita A, Takahashi H, Bujo H, Saito Y, NishizawaM(2010) Increased levels of soluble LR11 in cerebrospinal fluid of patients with Alzheimer disease. Dement Geriatr Cogn Disord 30, 28-32.
11. Grear KE, Ling IF, Simpson JF, Furman JL, Simmons CR, Peterson SL, Schmitt FA, Markesbery WR, Liu Q, Crook JE, Younkin SG, Bu G, Estus S (2009) Expression of SORL1 and a novel SORL1 splice variant in normal and Alzheimers disease brain. Mol Neurodegener 4, 46.
12. McCarthy JJ, Saith S, Linnertz C, Burke JR, Hulette CM, Welsh-Bohmer KA, Chiba-Falek O (2012) The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression. Neurobiol Aging 33, 1485.e1-8.
13. Caglayan S, Bauerfeind A, Schmidt V, Carlo AS, Prabakaran T, Hübner N,Willnow TE (2012) Identification of Alzheimer disease risk genotype that predicts efficiency of SORL1 expression in the brain. Arch Neurol 69, 373-379.
14. Kölsch H, Jessen F, Wiltfang J, Lewczuk P, Dichgans M, Kornhuber J, Frölich L, Heuser I, Peters O, Schulz JB, Schwab SG, Maier W (2008) Influence of SORL1 gene variants: Association with CSF amyloid-beta products in probable Alzheimer's disease. Neurosci Lett 440, 68-71.
15. Alexopoulos P, Guo LH, Kratzer M, Westerteicher C, Kurz A, Perneczky R (2011) Impact of SORL1 single nucleotide polymorphisms on Alzheimer's disease cerebrospinal fluid markers. Dement Geriatr Cogn Disord 32, 164-170.
16. Guo LH,Westerteicher C,Wang XH, Kratzer M, Tsolakidou A, Jiang M, Grimmer T, Laws SM, Alexopoulos P, Bujo H, Kurz A, Perneczky R (2012) SORL1 genetic variants and cerebrospinal fluid biomarkers of Alzheimer's disease. Eur Arch Psychiatry Clin Neurosci 262, 529-534.
17. Dodson SE, Andersen OM, Karmali V, Fritz JJ, Cheng D, Peng J, Levey AI, Willnow TE, Lah JJ (2008) Loss of LR11/SORLA enhances early pathology in a mouse model of amyloidosis: Evidence for a proximal role in Alzheimer's disease. J Neurosci 28, 12877-12886.
18. Lee JH, Cheng R, Schupf N, Manly J, Lantigua R, Stern Y, Rogaeva E, Wakutani Y, Farrer L, St George-Hyslop P, Mayeux R (2007) The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort. Arch Neurol 64, 501-506.
19. Meng Y, Lee JH, Cheng R, St George-Hyslop P, Mayeux R, Farrer LA (2007) Association between SORL1 and Alzheimer's disease in a genome-wide study. Neuroreport 18, 1761-1764.
20. Bettens K, Brouwers N, Engelborghs S, De Deyn PP, Van Broeckhoven C, Sleegers K (2008) SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population. Hum Mutat 29, 769-770.
21. Webster JA, Myers AJ, Pearson JV, Craig DW, Hu-Lince D, Coon KD, Zismann VL, Beach T, Leung D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Huentelman MJ, Joshipura K,Walker D, Heward CB, Ravid R, Rogers J, Papassotiropoulos A, Hardy J, Reiman EM, Stephan DA (2008) Sorl1 as an Alzheimer's disease predisposition gene? Neurodegener Dis 5, 60-64.
22. Li Y, Rowland C, Catanese J, Morris J, Lovestone S, O'Donovan MC, Goate A, Owen M, Williams J, Grupe A (2008) SORL1 variants and risk of late-onset Alzheimer's disease. Neurobiol Dis 29, 293-296.
23. Lee JH, Cheng R, Honig LS, Vonsattel JP, Clark L, Mayeux R (2008) Association between genetic variants in SORL1 and autopsy-confirmed Alzheimer disease. Neurology 70, 887-889.
24. Minster RL, DeKosky ST, Kamboh MI (2008) No association of SORL1 SNPs with Alzheimer's disease. Neurosci Lett 440, 190-192.
25. Schjeide BM,McQueen MB,Mullin K, DiVito J, Hogan MF, ParkinsonM,Hooli B, Lange C, Blacker D,Tanzi RE, Bertram L (2009) Assessment of Alzheimer's disease case-control associations using family-based methods. Neurogenetics 10, 19-25.
26. Feulner TM, Laws SM, Friedrich P,Wagenpfeil S,Wurst SH, Riehle C, Kuhn KA, Krawczak M, Schreiber S, Nikolaus S, Förstl H, Kurz A, Riemenschneider M (2010) Examination of the current top candidate genes for AD in a genome-wide association study. Mol Psychiatry 15, 756-766.
27. Kölsch H, Jessen F, Wiltfang J, Lewczuk P, Dichgans M, Teipel SJ, Kornhuber J, Frölich L, Heuser I, Peters O, Wiese B, Kaduszkiewicz H, van den Bussche H, Hüll M, Kurz A, Rüther E, Henn FA, Maier W (2009) Association of SORL1 gene variants with Alzheimer's disease. Brain Res 1264, 1-6.
28. Liu F, Ikram MA, JanssensAC, Schuur M, deKoning I, Isaacs A, Struchalin M, Uitterlinden AG, den Dunnen JT, Sleegers K, Bettens K, Van Broeckhoven C, van Swieten J, Hofman A, Oostra BA, Aulchenko YS, Breteler MM, van Duijn CM (2009) A study of the SORL1 gene in Alzheimer's disease and cognitive function. J Alzheimers Dis 18, 51-64.
29. Cellini E, Tedde A, Bagnoli S, Pradella S, Piacentini S, Sorbi S, Nacmias B (2009) Implication of sex and SORL1 variants in Italian patients with Alzheimer disease. Arch Neurol 66, 1260-1266.
30. Reynolds CA, Hong MG, Eriksson UK, Blennow K, Johansson B, Malmberg B, Berg S, Gatz M, Pedersen NL, Bennet AM, Prince JA (2010) Sequence variation in SORL1 and dementia risk in Swedes. Neurogenetics 11, 139-142.
31. Tan EK, Lee J, Chen CP, Teo YY, Zhao Y, Lee WL (2009) SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese. Neurobiol Aging 30, 1048-1051.
32. Ning M,YangY, Zhang Z, Chen Z, Zhao T, Zhang D, Zhou D, Xu J, Liu Z,Wang Y, Liu Y, Zhao X, LiW, Li S, He L (2010) Amyloid-beta-related genes SORL1 and ACE are genetically associated with risk for late-onset Alzheimer disease in the Chinese population. Alzheimer Dis Assoc Disord 24, 390-396.
33. Shibata N, Ohnuma T, Baba H, Higashi S, Nishioka K, Arai H (2008) Genetic association between SORL1 polymorphisms and Alzheimer's disease in a Japanese population. Dement Geriatr Cogn Disord 26, 161-164.
34. Lee JH, Shibata N, Cheng R, Mayeux R (2008) Possible association between SORL1 and Alzheimer disease? Reanalysing the data of Shibata et al. Dement Geriatr Cogn Disord 26, 482.
35. Kimura R, Yamamoto M, Morihara T, Akatsu H, Kudo T, Kamino K, TakedaM(2009) SORL1 is genetically associated with Alzheimer disease in a Japanese population. Neurosci Lett 461, 177-180.
36. Miyashita A,KoikeA, Jun G,Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga M, Kawase Y, Akatsu H, Kosaka K, Yamamoto T, Imagawa M, Hamaguchi T, Yamada M, Moriaha T, Takeda M, Takao T, Nakata K, Fujisawa Y, Sasaki K, Watanabe K, Nakajima K, Urakami K, Ooya T, Takahashi M, Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Kim JW, Ki CS, Won HH, NA, Seo DL, Mook-Jung SW, The Alzheimer Disease Genetics Consortium I, George-Hyslop PS, Mayeux R, Haines JL, Pericak-Vance MA, Yoshida M, Nishida N, Tokunaga K, Yamamoto K, Tsuji S, Kanazawa I, Ihara Y, Schellenberg GD, Farrer LA, Kuwano R (2013) SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PLoS One, in press
37. Braak H, Braak E (1991) Neuropathological staging of Alzheimer-related changes. Acta Neuropathol 82, 239-259.
38. Kitamura N, Akazawa K, Miyashita A, Kuwano R, Toyabe S, Nakamura J, Nakamura N, Sato T, Hoque MA (2009) Programs for calculating the statistical powers of detecting susceptibility genes in case-control studies based on multistage designs. Bioinformatics 25, 272-273.
39. Kuwano R, Miyashita A, Arai H, Asada T, ImagawaM, Shoji M, Higuchi S, Urakami K, Kakita A, Takahashi H, Tsukie T, Toyabe S, Akazawa K, Kanazawa I, Ihara Y, Japanese Genetic Study Consortium for Alzeheimer's Disease (2006) Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease. Hum Mol Genet 15, 2170-2182.
40. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296, 2225-2259.
41. Miyashita A, Arai H, Asada T, Imagawa M, Matsubara E, Shoji M, Higuchi S, Urakami K, Kakita A, Takahashi H, Toyabe S, Akazawa K, Kanazawa I, Ihara Y, Kuwano R, Japanese Genetic Study Consortium for Alzeheimer's Disease (2007) Genetic association of CTNNA3 with late-onset Alzheimer's disease in females. Hum Mol Genet 16, 2854-2869.
42. Reitz C, Cheng R, Rogaeva E, Lee JH, Tokuhiro S, Zou F, Bettens K, Sleegers K, Tan EK, Kimura R, Shibata N, Arai H, Kamboh MI, Prince JA, MaierW, Riemenschneider M, Owen M, Harold D, Hollingworth P, Cellini E, Sorbi S, Nacmias B, Takeda M, Pericak-Vance MA, Haines JL, Younkin S, Williams J, van BroeckhovenC, Farrer LA, St George-Hyslop PH, Mayeux R; Genetic and Environmental Risk in Alzheimer Disease 1 Consortium (2011) Meta-Analysis of the association between variants in SORL1 and Alzheimer disease. Arch Neurol 68, 99-106.
43. Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, Myers RH, Pericak-Vance MA, Risch N, van DuijnCM(1997) Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease.Ameta-Analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 278, 1349-1356.
44. Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE (2007) Systematic meta-Analyses of Alzheimer disease genetic association studies: The AlzGene database. Nat Genet 39, 17-23.
45. Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A,Wallon D, Rousseau S, Legallic S, Paquet C, Bombois S, Pariente J, Thomas-Anterion C, Michon A, Croisile B, Etcharry-Bouyx F, Berr C, Dartigues JF, Amouyel P, Dauchel H, Boutoleau-Bretonnìere C, Thauvin C, Frebourg T, Lambert JC, Campion D, PHRC GMAJ Collaborators (2012) High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 17, 875-879.