Association of the RAGE G82S polymorphism with Alzheimer's disease

Journal of Neural Transmission

Volumn 117, Issue 7, 2010, Pages 861-867

  Daborg, Jonny ^a   Von Otter, Malin ^a   Sjölander, Annica ^a   Nilsson, Staffan ^b   Minthon, Lennart ^c   Gustafson, Deborah R ^a   Skoog, Ingmar ^a   Blennow, Kaj ^a   Zetterberg, Henrik ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b CHALMERS UNIVERSITY OF TECHNOLOGY   (Sweden)

^c LUND UNIVERSITY   (Sweden)

Author keywords

Advanced glycosylation end product specific receptor; AGER; Alzheimer's disease; Haplotype; RAGE; SNP

Indexed keywords

ADVANCED GLYCATION END PRODUCT RECEPTOR; AMYLOID BETA PROTEIN[1-42]; APOLIPOPROTEIN E; APOLIPOPROTEIN E EPSILON 4; BIOLOGICAL MARKER; TAU PHOSPHORYLATED AT THREONINE 181; TAU PROTEIN; UNCLASSIFIED DRUG; ADVANCED GLYCOSYLATION END-PRODUCT RECEPTOR; AMYLOID BETA PROTEIN; AMYLOID BETA-PROTEIN (1-42); APOLIPOPROTEIN E4; IMMUNOGLOBULIN RECEPTOR; MAPT PROTEIN, HUMAN; PEPTIDE FRAGMENT;

AGED; AGER GENE; ALLELE; ALZHEIMER DISEASE; ARTICLE; CEREBROSPINAL FLUID; COGNITION; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; FEMALE; GENE; GENE INTERACTION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MINI MENTAL STATE EXAMINATION; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; COHORT ANALYSIS; DNA SEQUENCE; EUROPE; GENETIC ASSOCIATION; GENETICS; METABOLISM; NEUROPSYCHOLOGICAL TEST; PHOSPHORYLATION; PSYCHOLOGY; RISK;

AGED; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; APOLIPOPROTEIN E4; BIOLOGICAL MARKERS; CASE-CONTROL STUDIES; COHORT STUDIES; EUROPE; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; NEUROPSYCHOLOGICAL TESTS; PEPTIDE FRAGMENTS; PHOSPHORYLATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, IMMUNOLOGIC; RISK; SEQUENCE ANALYSIS, DNA; TAU PROTEINS; AMYLOID BETA-PEPTIDES;

EID: 77954535503     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-010-0437-0     Document Type: Article

References (48)

1. O Arancio HP Zhang X Chen C Lin F Trinchese D Puzzo S Liu A Hegde SF Yan A Stern JS Luddy LF Lue DG Walker A Roher M Buttini L Mucke W Li AM Schmidt M Kindy PA Hyslop DM Stern SS Du Yan 2004 RAGE potentiates Abeta-induced perturbation of neuronal function in transgenic mice EMBO J 23 4096 4105 10.1038/sj.emboj.7600415 1:CAS:528:DC%2BD2cXotlCrs7Y%3D 15457210 (Pubitemid 39472430)
2. JC Barrett B Fry J Maller MJ Daly 2005 Haploview: analysis and visualization of LD and haplotype maps Bioinformatics 21 263 265 10.1093/bioinformatics/bth457 1:CAS:528:DC%2BD2MXkt1WitQ%3D%3D 15297300 (Pubitemid 40202029)
3. L Bertram RE Tanzi 2010 Alzheimer disease: new light on an old CLU Nat Rev Neurol 6 11 13 10.1038/nrneurol.2009.213 1:CAS:528:DC%2BC3cXisV2gsQ%3D%3D 20057494
4. K Blennow A Wallin H Agren C Spenger J Siegfried E Vanmechelen 1995 Tau protein in cerebrospinal fluid: a biochemical marker for axonal degeneration in Alzheimer disease? Mol Chem Neuropathol 26 231 245 10.1007/BF02815140 1:STN:280:DyaK283oslymtw%3D%3D 8748926
5. K Blennow MJ De leon H Zetterberg 2006 Alzheimer's disease Lancet 368 387 403 10.1016/S0140-6736(06)69113-7 1:CAS:528:DC%2BD28XnsFymsbY%3D 16876668 (Pubitemid 44108123)
6. K Blennow H Hampel M Weiner H Zetterberg 2010 Cerebrospinal fluid and plasma biomarkers in Alzheimer disease Nat Rev Neurol 6 131 144 10.1038/nrneurol.2010.4 1:CAS:528:DC%2BC3cXivVGqtb0%3D 20157306
7. MEL Blomqvist C Reynolds H Katzov L Feuk N Andreasen N Bogdanovic K Blennow AJ Brookes JA Prince 2006 Towards compendia of negative genetic association studies: an example for Alzheimer disease Hum Genet 119 29 37 10.1007/s00439-005-0078-9 1:CAS:528:DC%2BD28XhvVaqtr0%3D 16341549
8. MO Chaney WB Stine TA Kokjohn Y-M Kuo C Esh A Rahman DC Luehrs AM Schmidt D Stern SD Yan AE Roher 2005 RAGE and amyloid beta interactions: atomic force microscopy and molecular modeling Biochim Biophys Acta 1741 199 205 1:CAS:528:DC%2BD2MXlt1Witr4%3D 15882940
9. HJ Cho SM Son SM Jin HS Hong DH Shin SJ Kim K Huh I Mook-Jung 2009 RAGE regulates BACE1 and Abeta generation via NFAT1 activation in Alzheimer's disease animal model FASEB J 23 2639 2649 10.1096/fj.08-126383 1:CAS:528: DC%2BD1MXpvFOltL0%3D 19332646
10. R Deane S Du Yan RK Submamaryan B Larue S Jovanovic E Hogg D Welch L Manness C Lin J Yu H Zhu J Ghiso B Frangione A Stern AM Schmidt DL Armstrong B Arnold B Liliensiek P Nawroth F Hofman M Kindy D Stern B Zlokovic 2003 RAGE mediates amyloid-beta peptide transport across the blood-brain barrier and accumulation in brain Nat Med 9 907 913 10.1038/nm890 1:CAS:528: DC%2BD3sXkvFOjsL0%3D 12808450 (Pubitemid 36889934)
11. Q Ding JN Keller 2005 Splice variants of the receptor for advanced glycosylation end products (RAGE) in human brain Neurosci Lett 373 67 72 10.1016/j.neulet.2004.09.059 1:CAS:528:DC%2BD2cXhtVSktrbI 15555779 (Pubitemid 39536223)
12. T Emahazion L Feuk M Jobs SL Sawyer D Fredman D St Clair JA Prince AJ Brookes 2001 SNP association studies in Alzheimer's disease highlight problems for complex disease analysis Trends Genet 17 407 413 10.1016/S0168-9525(01) 02342-3 1:CAS:528:DC%2BD3MXksVyntLY%3D 11418222 (Pubitemid 32545387)
13. E Emanuele A D'angelo C Tomaino G Binetti R Ghidoni P Politi L Bernardi R Maletta AC Bruni D Geroldi 2005 Circulating levels of soluble receptor for advanced glycation end products in Alzheimer disease and vascular dementia Arch Neurol 62 1734 1736 10.1001/archneur.62.11.1734 16286548 (Pubitemid 41626671)
14. L Excoffier M Slatkin 1995 Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population Mol Biol Evol 12 921 927 1:STN:280:DyaK28%2FntlClsw%3D%3D 7476138
15. F Fang LF Lue S Yan H Xu JS Luddy D Chen DG Walker DM Stern AM Schmidt JX Chen SS Yan 2010 RAGE-dependent signaling in microglia contributes to neuroinflammation, Abeta accumulation, and impaired learning/memory in a mouse model of Alzheimer's disease FASEB J 24 1043 1055 10.1096/fj.09-139634 1:CAS:528:DC%2BC3cXktlOqsLg%3D 19906677
16. MF Folstein SE Folstein PR Mchugh 1975 Mini-mental state: a practical method for grading the cognitive state of patients for the clinician J Psychiatr Res 12 189 198 10.1016/0022-3956(75)90026-6 1:STN:280:DyaE28%2FntFKjtw%3D%3D 1202204
17. O Hansson H Zetterberg P Buchhave E Londos K Blennow L Minthon 2006 Association between CSF biomarkers and incipient Alzheimer's disease in patients with mild cognitive impairment: a follow-up study Lancet Neurol 5 228 234 10.1016/S1474-4422(06)70355-6 1:CAS:528:DC%2BD28XisF2qsbg%3D 16488378 (Pubitemid 43238346)
18. Hapmap-Consortium 2003 The International Hapmap Project Nature 426 789 796 10.1038/nature02168 (Pubitemid 38056856)
19. MA Hofmann S Drury BI Hudson MR Gleason W Qu Y Lu E Lalla S Chitnis J Monteiro MH Stickland LG Bucciarelli B Moser G Moxley S Itescu PJ Grant PK Gregersen DM Stern AM Schmidt 2002 RAGE and arthritis: the G82S polymorphism amplifies the inflammatory response Genes Immun 3 123 135 10.1038/sj.gene. 6363861 1:CAS:528:DC%2BD38Xktlyrsrg%3D 12070776 (Pubitemid 38961122)
20. Y Jang JY Kim S-M Kang J-S Kim JS Chae OY Kim SJ Koh HC Lee CW Ahn YD Song JH Lee 2007 Association of the Gly82 Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene with circulating levels of soluble RAGE and inflammatory markers in nondiabetic and nonobese Koreans Metab Clin Exp 56 199 205 1:CAS:528:DC%2BD2sXlslSgtQ%3D%3D 17224333
21. I Klyubin V Betts AT Welzel K Blennow H Zetterberg A Wallin CA Lemere WK Cullen Y Peng T Wisniewski DJ Selkoe R Anwyl DM Walsh MJ Rowan 2008 Amyloid beta protein dimer-containing human CSF disrupts synaptic plasticity: prevention by systemic passive immunization J Neurosci 28 4231 4237 10.1523/JNEUROSCI.5161-07. 2008 1:CAS:528:DC%2BD1cXltVOnu7w%3D 18417702
22. J Lauren DA Gimbel HB Nygaard JW Gilbert SM Strittmatter 2009 Cellular prion protein mediates impairment of synaptic plasticity by amyloid-beta oligomers Nature 457 1128 1132 10.1038/nature07761 1:CAS:528: DC%2BD1MXitlGksrk%3D 19242475
23. S Li S Hong NE Shepardson DM Walsh GM Shankar D Selkoe 2009 Soluble oligomers of amyloid beta protein facilitate hippocampal long-term depression by disrupting neuronal glutamate uptake Neuron 62 788 801 10.1016/j.neuron.2009. 05.012 1:CAS:528:DC%2BD1MXpsFOnsro%3D 19555648
24. K Li D Dai B Zhao L Yao S Yao B Wang Z Yang 2010 Association between the RAGE G82S polymorphism and Alzheimer's disease J Neural Transm 117 97 104 10.1007/s00702-009-0334-6 1:CAS:528:DC%2BD1MXhsFWmurnI 19902324
25. KJ Livak 1999 Allelic discrimination using fluorogenic probes and the 5' nuclease assay Genet Anal 14 143 149 1:CAS:528:DyaK1MXhvVylsbo%3D 10084106
26. LF Lue DG Walker L Brachova TG Beach J Rogers AM Schmidt DM Stern SD Yan 2001 Involvement of microglial receptor for advanced glycation endproducts (RAGE) in Alzheimer's disease: identification of a cellular activation mechanism Exp Neurol 171 29 45 10.1006/exnr.2001.7732 1:CAS:528:DC%2BD3MXmtFyqtrc%3D 11520119 (Pubitemid 32848443)
27. L-F Lue DG Walker S Jacobson M Sabbagh 2009 Receptor for advanced glycation end products: its role in Alzheimer's disease and other neurological diseases Future Neurol 4 167 177 10.2217/14796708.4.2.167 1:CAS:528: DC%2BD1MXitlylu74%3D 19885375
28. SJ Martin PD Grimwood RG Morris 2000 Synaptic plasticity and memory: an evaluation of the hypothesis Annu Rev Neurosci 23 649 711 10.1146/annurev.neuro. 23.1.649 1:CAS:528:DC%2BD3cXjs1Gms7g%3D 10845078 (Pubitemid 30350057)
29. G Mckhann D Drachman M Folstein R Katzman D Price EM Stadlan 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 1:STN:280:DyaL2c3ks1altQ%3D%3D 6610841
30. MC Miller R Tavares CE Johanson V Hovanesian JE Donahue L Gonzalez GD Silverberg EG Stopa 2008 Hippocampal RAGE immunoreactivity in early and advanced Alzheimer's disease Brain Res 1230 273 280 10.1016/j.brainres.2008.06.124 1:CAS:528:DC%2BD1cXhtVKmu7vF 18657529
31. I Nozaki T Watanabe M Kawaguchi H Akatsu K Tsuneyama Y Yamamoto K Ohe H Yonekura M Yamada H Yamamoto 2007 Reduced expression of endogenous secretory receptor for advanced glycation endproducts in hippocampal neurons of Alzheimer's disease brains Arch Histol Cytol 70 279 290 10.1679/aohc.70.279 1:CAS:528:DC%2BD1cXmtlSkurk%3D 18431028 (Pubitemid 351594919)
32. N Origlia M Righi S Capsoni A Cattaneo F Fang DM Stern JX Chen AM Schmidt O Arancio SD Yan L Domenici 2008 Receptor for advanced glycation end product-dependent activation of p38 mitogen-activated protein kinase contributes to amyloid-beta-mediated cortical synaptic dysfunction J Neurosci 28 3521 3530 10.1523/JNEUROSCI.0204-08.2008 1:CAS:528:DC%2BD1cXkt1ahtLo%3D 18367618 (Pubitemid 351469321)
33. N Origlia S Capsoni A Cattaneo F Fang O Arancio SD Yan l Domenici 2009 Abeta-dependent inhibition of LTP in different intracortical circuits of the visual cortex: the role of RAGE J Alzheimers Dis 17 59 68 1:CAS:528: DC%2BD1MXmsFKgu7Y%3D 19221410
34. M Osawa Y Yamamoto S Munesue N Murakami S Sakurai T Watanabe H Yonekura Y Uchigata Y Iwamoto H Yamamoto 2007 De-N-glycosylation or G82S mutation of rage sensitizes its interaction with advanced glycation endproducts Biochim Biophys Acta 1770 1468 1474 1:CAS:528:DC%2BD2sXhtVCitrnP 17714874
35. A Raucci S Cugusi A Antonelli SM Barabino L Monti A Bierhaus K Reiss P Saftig ME Bianchi 2008 A soluble form of the receptor for advanced glycation endproducts (RAGE) is produced by proteolytic cleavage of the membrane-bound form by the sheddase a disintegrin and metalloprotease 10 (ADAM10) FASEB J 22 3716 3727 10.1096/fj.08-109033 1:CAS:528:DC%2BD1cXht1SqsrfL 18603587
36. DP Salmon MW Bondi 2009 Neuropsychological assessment of dementia Annu Rev Psychol 60 257 282 10.1146/annurev.psych.57.102904.190024 18616392
37. AM Schmidt B Sahagan RB Nelson J Selmer R Rothlein JM Bell 2009 The role of RAGE in amyloid-beta peptide-mediated pathology in Alzheimer's disease Curr Opin Investig Drugs 10 672 680 1:CAS:528:DC%2BC3cXnt1Khs7s%3D 19579173
38. GM Shankar S Li TH Mehta A Garcia-Munoz NE Shepardson I Smith FM Brett MA Farrell MJ Rowan CA Lemere CM Regan DM Walsh BL Sabatini DJ Selkoe 2008 Amyloid-beta protein dimers isolated directly from Alzheimer's brains impair synaptic plasticity and memory Nat Med 14 837 842 10.1038/nm1782 1:CAS:528:DC%2BD1cXptlKltb0%3D 18568035
39. K Takuma F Fang W Zhang S Yan E Fukuzaki H Du A Sosunov G Mckhann Y Funatsu N Nakamichi T Nagai H Mizoguchi D Ibi O Hori S Ogawa DM Stern K Yamada SS Yan 2009 RAGE-mediated signaling contributes to intraneuronal transport of amyloid-beta and neuronal dysfunction Proc Natl Acad Sci USA 106 20021 20026 1:CAS:528:DC%2BD1MXhsFGjtLvO 19901339
40. M Townsend GM Shankar T Mehta DM Walsh DJ Selkoe 2006 Effects of secreted oligomers of amyloid beta-protein on hippocampal synaptic plasticity: a potent role for trimers J Physiol 572 477 492 10.1113/jphysiol.2005.103754 1:CAS:528:DC%2BD28XksV2jtrc%3D 16469784
41. M Townsend T Mehta DJ Selkoe 2007 Soluble Abeta inhibits specific signal transduction cascades common to the insulin receptor pathway J Biol Chem 282 33305 33312 10.1074/jbc.M610390200 1:CAS:528:DC%2BD2sXht1Oru7bL 17855343 (Pubitemid 350159548)
42. H Vanderstichele E van Kerschaver C Hesse P Davidsson MA Buyse N Andreasen L Minthon A Wallin K Blennow E Vanmechelen 2000 Standardization of measurement of beta-amyloid(1-42) in cerebrospinal fluid and plasma Amyloid 7 245 258 10.3109/13506120009146438 1:CAS:528:DC%2BD3cXptVanu7o%3D 11132093
43. E Vanmechelen H Vanderstichele P Davidsson E Van kerschaver B Van der perre M Sjogren N Andreasen K Blennow 2000 Quantification of tau phosphorylated at threonine 181 in human cerebrospinal fluid: a sandwich ELISA with a synthetic phosphopeptide for standardization Neurosci Lett 285 49 52 10.1016/S0304- 3940(00)01036-3 1:CAS:528:DC%2BD3cXislaku74%3D 10788705 (Pubitemid 30224621)
44. I Vodopivec A Galichet M Knobloch A Bierhaus CW Heizmann RM Nitsch 2009 RAGE does not affect amyloid pathology in transgenic ArcAbeta mice Neurodegener Dis 6 270 280 10.1159/000261723 1:CAS:528:DC%2BC3cXhsl2gsro%3D 20145420
45. M von Otter S Landgren S Nilsson M Zetterberg D Celojevic P Bergstrom L Minthon N Bogdanovic N Andreasen DR Gustafson I Skoog A Wallin G Tasa K Blennow M Nilsson O Hammarsten H Zetterberg 2010 Nrf2-encoding NFE2L2 haplotypes influence disease progression but not risk in Alzheimer's disease and age-related cataract Mech Ageing Dev 131 105 110 10.1016/j.mad.2009.12.007
46. DM Walsh I Klyubin JV Fadeeva WK Cullen R Anwyl MS Wolfe MJ Rowan DJ Selkoe 2002 Naturally secreted oligomers of amyloid beta protein potently inhibit hippocampal long-term potentiation in vivo Nature 416 535 539 10.1038/416535a 1:CAS:528:DC%2BD38XivVOntL8%3D 11932745 (Pubitemid 34288854)
47. SD Yan X Chen J Fu M Chen H Zhu A Roher T Slattery L Zhao M Nagashima J Morser A Migheli P Nawroth D Stern AM Schmidt 1996 RAGE and amyloid-beta peptide neurotoxicity in Alzheimer's disease Nature 382 685 691 10.1038/382685a0 1:CAS:528:DyaK28Xlt1yltr0%3D 8751438 (Pubitemid 26282167)
48. H Zetterberg LO Wahlund K Blennow 2003 Cerebrospinal fluid markers for prediction of Alzheimer's disease Neurosci Lett 352 67 69 10.1016/j.neulet.2003. 08.011 1:CAS:528:DC%2BD3sXovVensrw%3D 14615052 (Pubitemid 37412328)