SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians

PLoS ONE

Volumn 8, Issue 4, 2013, Pages

  Miyashita, Akinori ^a   Koike, Asako ^b   Jun, Gyungah ^c   Wang, Li San ^d   Takahashi, Satoshi ^e   Matsubara, Etsuro ^f   Kawarabayashi, Takeshi ^f   Shoji, Mikio ^f   Tomita, Naoki ^g   Arai, Hiroyuki ^g   Asada, Takashi ^h   Harigaya, Yasuo ⁱ   Ikeda, Masaki ^j   Amari, Masakuni ^j   Hanyu, Haruo ^k   Higuchi, Susumu ^l   Ikeuchi, Takeshi ^a   Nishizawa, Masatoyo ^a   Suga, Masaichi ^m   Kawase, Yasuhiro ⁿ   Akatsu, Hiroyasu ^o   Kosaka, Kenji ^o   Yamamoto, Takayuki ^o   Imagawa, Masaki ^p   Hamaguchi, Tsuyoshi ^q   Yamada, Masahito ^q   Moriaha, Takashi ^r   Takeda, Masatoshi ^r   Takao, Takeo ^s   Nakata, Kenji ^t   Fujisawa, Yoshikatsu ^t   Sasaki, Ken ^t   Watanabe, Ken ^u   Nakashima, Kenji ^v   Urakami, Katsuya ^v   Ooya, Terumi ^w   Takahashi, Mitsuo ^x   Yuzuriha, Takefumi ^y   Serikawa, Kayoko ^z   Yoshimoto, Seishi ^z   Nakagawa, Ryuji ^z   Kim, Jong Won ^aa   Ki, Chang Seok ^aa   Won, Hong Hee ^aa   Na, Duk L ^aa   Seo, Sang Won ^aa   Mook Jung, Inhee ^ab   St George Hyslop, Peter ^ac,ak   Mayeux, Richard ^ad   Haines, Jonathan L ^ae   Pericak Vance, Margaret A ^af   Yoshida, Makiko ^b   Nishida, Nao ^ag   Tokunaga, Katsushi ^ag   Yamamoto, Ken ^ah   Tsuji, Shoji ^ag   Kanazawa, Ichiro ^ai   Ihara, Yasuo ^aj   Schellenberg, Gerard D ^d   Farrer, Lindsay A ^c   Kuwano, Ryozo ^a   more..

^a NIIGATA UNIVERSITY   (Japan)

^b HITACHI LTD   (Japan)

^c BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e IWATE MEDICAL UNIVERSITY   (Japan)

^f HIROSAKI UNIVERSITY   (Japan)

^g TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h UNIVERSITY OF TSUKUBA   (Japan)

ⁱ MAEBASHI RED CROSS HOSPITAL   (Japan)

^j GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^k TOKYO MEDICAL UNIVERSITY   (Japan)

^l KURIHAMA NATIONAL HOSPITAL   (Japan)

^m Niigata Hosp   (Japan)

ⁿ Kawase Neurology Clinic   (Japan)

^o Fukushimura Hospital   (Japan)

^p Imagawa Clinic   (Japan)

^q KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^r OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^s Kurashiki Heisei Hospital   (Japan)

^t Kinoko Espoir Hospital   (Japan)

^u Watanabe Hospital   (Japan)

^v TOTTORI UNIVERSITY   (Japan)

^w Town Office   (Japan)

^x FUKUOKA UNIVERSITY   (Japan)

^y National Hospital Organization Hizen Psychiatric Center   (Japan)

^z Ureshino Onsen Hospital   (Japan)

^aa Sungkyunkwan University School of Medicine   (South Korea)

^ab Seoul National University College of Medicine   (South Korea)

^ac UNIVERSITY OF TORONTO   (Canada)

^ad Och Spine at New York Presbyterian Hospitals   (United States)

^ae VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

^ag UNIVERSITY OF TOKYO   (Japan)

^ah KYUSHU UNIVERSITY   (Japan)

^ai NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^aj DOSHISHA UNIVERSITY   (Japan)

^ak UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E;

ADULT; AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; BIN1 GENE; CAUCASIAN; CHROMOSOME 11; CLINICAL EVALUATION; CONTROLLED STUDY; ETHNIC DIFFERENCE; ETHNIC GROUP; FEMALE; GENE LOCUS; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; JAPANESE; KOREAN; MAJOR CLINICAL STUDY; MALE; PICALM GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SORL1 GENE;

ALLELES; ALZHEIMER DISEASE; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; JAPAN; LDL-RECEPTOR RELATED PROTEINS; MEMBRANE TRANSPORT PROTEINS; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; REPUBLIC OF KOREA;

EID: 84875661996     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0058618     Document Type: Article

References (32)

1. Ertekin-Taner N, (2010) Genetics of Alzheimer disease in the pre- and post-GWAS era. Alzheimer's Res Ther 2: 3.
2. Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, et al. (2012) High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 17: 875-879.
3. Farrer LA, Cupples LA, Haines JL, Hyman BT, Kukull WA, et al. (1997) Effects of age, gender and ethnicity on the association of apolipoprotein E genotype and Alzheimer disease. JAMA 278: 1349-1356.
4. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, et al. (2012) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 43: 429-435.
5. Naj AC, Jun G, Beecham GW, Wang L-S, Vardarajan BN, et al. (2011) Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 43: 436-441.
6. Kuwano R, Kuwano R, Miyashita A, Arai H, Asada T, et al. (2006) Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease. Hum Mol Genet 15: 2170-2182.
7. Miyashita A, Arai H, Asada T, Imagawa M, Matsubara E, et al. (2007) Genetic association of CTNNA3 with late-onset Alzheimer's disease in females. Hum Mol Genet 16: 2854-2869.
8. McKhann G, Drachman D, Folstein M, Katzman R, Price D, et al. (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34: 939-944.
9. Folstein MF, Folstein SE, McHugh PR, (1975) "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12: 189-198.
10. Morris JC, (1993) The Clinical Dementia Rating (CDR): current version and scoring rules. Neurology 43: 2412-2414.
11. Reisberg B, (1988) Functional assessment staging (FAST). Psychopharmacol Bull 24: 653-659.
12. Seo SW, Im K, Lee JM, Kim YH, Kim ST, et al. (2007) Cortical thickness in single- versus multiple-domain amnestic mild cognitive impairment. Neuroimage 36: 289-297.
13. Jun G, Vardarajan BN, Buros J, Yu C-E, Hawk MV, et al. (2012) A comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol 69: 1270-1279.
14. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
15. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909.
16. Li M, Boehnke M, Abecasis GR, (2006) Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. Am J Hum Genet 78: 778-792.
17. Donnelly P, Marchini J, (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genetics 5: e100529.
18. Willer CJ, Li Y, Abecasis GR, (2010) METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26: 2190-2191.
19. Rogaeva E, Meng Y, Lee JH, Gu Y-J, Zou F, et al. (2007) The sortilin-related receptor SORL1 is functionally and genetically associated with Alzheimer's disease. Nat Genet 39: 168-177.
20. Reitz C, Rogaeva E, Lee JH, Tokuhiro S, Bettens K, et al. (2011) Association of SORL1 gene variants with Alzheimer's disease: A meta-analysis. Arch Neurol 68: 99-106.
21. Cuenco KT, Lunetta K, Baldwin CT, McKee AC, Guo J, et al. (2008) Distinct variants in SORL1 are associated with cerebrovascular and neurodegenerative changes related to Alzheimer disease. Arch Neurol 65: 1640-1648.
22. Gordon D, Haynes C, Blumenfeld J, Finch SJ, (2005) PAWE-3D: visualizing power for association with error in case-control genetic studies of complex traits. Bioinformatics 21: 3935-3937.
23. Li HL, Shi SS, Guo QH, Ni W, Dong Y, et al. (2011) PICALM and CR1 variants are not associated with sporadic Alzheimer's disease in Chinese patients. J Alzheimers Dis 25: 111-117.
24. Yu JT, Song JH, Ma T, Zhang W, Yu NN, et al. (2011) Genetic association of PICALM polymorphisms with Alzheimer's disease in Han Chinese. J Neurol Sci 300: 78-80.
25. Chen LH, Kao PY, Fan YH, Ho DT, Chan CS, et al. (2012) Polymorphisms of CR1, CLU and PICALM confer susceptibility of Alzheimer's disease in a southern Chinese population. Neurobiol Aging 33: 210.e1-7.
26. Takei N, Miyashita A, Tsukie T, Arai H, Asada T, et al. (2009) Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. Genomics 93: 441-448.
27. Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, et al. (2005) Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. Proc Natl Acad Sci USA 102: 13461-13466.
28. Fjorback AW, Seaman M, Gustafsen C, Mehmedbasic A, Gokool S, et al. (2012) Retromer binds the FANSHY sorting motif in SorLA to regulate amyloid precursor protein sorting and processing. J Neurosci 32: 1467-1480.
29. Dodson SE, Andersen OM, Karmali V, Fritz JJ, Cheng D, et al. (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.
30. Kölsch H, Jessen F, Wiltfang J, Lewczuk P, Dichgans M, et al. (2008) Influence of SORL1 gene variants: association with CSF amyloid-beta products in probable Alzheimer's disease. Neurosci Lett 440: 68-71.
31. Vardarajan BN, Breusegem SY, Harbour ME, Rivka Inzelberg, Friedland R, et al. (2012) Identification of Alzheimer disease associated variants in genes that regulate retromer function. Neurobiol Aging 33: 2231.e15-2231.e30.
32. Choy RW-Y, Cheng Z, Schekman R, (2012) Amyloid precursor protein (APP) traffics from the cell surface via endosomes for amyloid β (Aβ) production in the trans-Golgi network. Proc Natl Acad Sci USA 109: 2077-2082.