A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly

Molecular Psychiatry

Volumn 19, Issue 12, 2014, Pages 1326-1335

  Chouraki, V ^a,b,c   De Bruijn, R F A G ^d,e   Chapuis, J ^a,b,c   Bis, J C ^f   Reitz, C ^g,h,i   Schraen, S ^c,j   Ibrahim Verbaas, C A ^d   Grenier Boley, B ^a,b,c   Delay, C ^a,b,c   Rogers, R ^g   Demiautte, F ^a,b,c   Mounier, A ^a,b,c   Fitzpatrick, A L ^f   Berr, C ^k   Dartigues, J F ^a   Uitterlinden, A G ^d,e   Hofman, A ^d,e   Breteler, M ^d,l   Becker, J T ^m   Lathrop, M ^n,o   Schupf, N ^h   Alperovitch A ^a   Mayeux, R ^g,i   Van Duijn, C M ^d,e   Buee L ^c,j   Amouyel, P ^a,b,c   Lopez, O L ^m   Ikram, M A ^d,e   Tzourio, C ^a   Lambert, J C ^a,b,c   more..

^a INSERM   (France)

^b INSTITUT PASTEUR DE LILLE   (France)

^c UNIV LILLE   (France)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e Netherlands Consortium for Healthy Ageing   (Netherlands)

^f UNIVERSITY OF WASHINGTON   (United States)

^g NewYork Presbyterian Hospital   (United States)

^h Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

ⁱ Universitaire de Lille ^*  (United States)

^j JEAN PIERRE AUBERT RESEARCH CENTER   (France)

^k Montpellier 1 University   (France)

^l GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^m UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

ⁿ FONDATION JEAN DAUSSET CEPH   (France)

^o CENTRE NATIONAL DE GÉNOTYPAGE   (France)

more..

Author keywords

alzheimer; A ; ctxn3; elderly; gwas; peptides; plasma

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; AMYLOID BETA PROTEIN; AMYLOID BETA-PROTEIN (1-42); AMYLOID PRECURSOR PROTEIN; APP PROTEIN, HUMAN; CTXN3 PROTEIN, HUMAN; MEMBRANE PROTEIN; PEPTIDE FRAGMENT;

ALZHEIMER DISEASE; ARTICLE; ENDOPHENOTYPE; GENETIC ASSOCIATION; GENOTYPING TECHNIQUE; GERIATRIC PATIENT; HEREDITY; HUMAN; IN VITRO STUDY; META ANALYSIS (TOPIC); NEUROIMAGING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN METABOLISM; AGING; BLOOD; CAUCASIAN; GENETICS; HEK293 CELL LINE; META ANALYSIS; METABOLISM; SINGLE NUCLEOTIDE POLYMORPHISM;

AGING; AMYLOID BETA-PEPTIDES; AMYLOID BETA-PROTEIN PRECURSOR; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOME-WIDE ASSOCIATION STUDY; HEK293 CELLS; HUMANS; MEMBRANE PROTEINS; PEPTIDE FRAGMENTS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84903565683     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2013.185     Document Type: Article

References (70)

1. De Strooper B, Annaert W. Proteolytic processing and cell biological functions of the amyloid precursor protein. J Cell Sci 2000; 113(Pt 11): 1857-1870
2. Yazawa H, Yu ZX, Takeda, Le Y, Gong W, Ferrans VJ., et al. Beta amyloid peptide (Abeta42) is internalized via the G-protein-coupled receptor FPRL1 and forms fibrillar aggregates in macrophages. FASEB J 2001; 15: 2454-2462
3. Maezawa I, Jin L-W, Woltjer RL, Maeda N, Martin GM, Montine TJ, Montine KS. Apolipoprotein E isoforms and apolipoprotein AI protect from amyloid precursor protein carboxy terminal fragment-associated cytotoxicity. J Neurochem 2004; 91: 1312-1321
4. Yankner BA, Duffy LK, Kirschner DA. Neurotrophic and neurotoxic effects of amyloid beta protein: reversal by tachykinin neuropeptides. Science 1990; 250: 279-282
5. Thomas T, Thomas G, McLendon C, Sutton T, Mullan M. Beta-amyloid-mediated vasoactivity and vascular endothelial damage. Nature 1996; 380: 168-171
6. Li QX, Whyte S, Tanner JE, Evin G, Beyreuther K, Masters CL. Secretion of Alzheimer's disease Abeta amyloid peptide by activated human platelets. Lab Invest 1998; 78: 461-469
7. Kontush A. Alzheimer's amyloid-beta as a preventive antioxidant for brain lipoproteins. Cell Mol Neurobiol 2001; 21: 299-315
8. Soscia SJ, Kirby JE, Washicosky KJ, Tucker SM, Ingelsson M, Hyman B., et al. The Alzheimer's disease-associated amyloid beta-protein is an antimicrobial peptide. PLoS One 2010; 5: e9505
9. Van Oijen M, Hofman A, Soares HD, Koudstaal PJ, Breteler MMB. Plasma Abeta(1- 40) and Abeta(1-42) and the risk of dementia: a prospective case-cohort study. Lancet Neurol 2006; 5: 655-660
10. Lambert J-C, Schraen-Maschke S, Richard F, Fievet N, Rouaud O, Berr C., et al. Association of plasma amyloid beta with risk of dementia: the prospective threecity study. Neurology 2009; 73: 847-853
11. Lambert J-C, Dallongeville J, Ellis KA, Schraen-Maschke S, Lui J, Laws S., et al. Association of plasma aß peptides with blood pressure in the elderly. PLoS One 2011; 6: e18536
12. Ibrahim-Verbaas CA, Zorkoltseva IV, Amin N, Schuur M, Coppus AMW, Isaacs A., et al. Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2. Hum Genet 2012; 131: 1869-1876
13. Ertekin-Taner N, Graff-Radford N, Younkin LH, Eckman C, Adamson J, Schaid DJ., et al. Heritability of plasma amyloid beta in typical late-onset Alzheimer's disease pedigrees. Genet Epidemiol 2001; 21: 19-30
14. 3C. Study Group. Vascular factors and risk of dementia: design of the three-city study and baseline characteristics of the study population. Neuroepidemiology 2003; 22: 316-325
15. Hofman A, Van Duijn CM, Franco OH, Ikram MA, Janssen HLA, Klaver CCW., et al. The Rotterdam study: 2012 objectives and design update. Eur J Epidemiol 2011; 26: 657-686
16. Ikram MA, Van Der Lugt A, Niessen WJ, Krestin GP, Koudstaal PJ, Hofman A. The Rotterdam scan study: design and update up to 2012. Eur J Epidemiol 2011; 26: 811-824
17. Lopez OL, Kuller LH, Mehta PD, Becker JT, Gach HM, Sweet RA. Plasma amyloid levels and the risk of AD in normal subjects in the cardiovascular health study. Neurology 2008; 70: 1664-1671
18. Toledo JB, Vanderstichele H, Figurski M, Aisen PS, Petersen RC, Weiner MW., et al. Factors affecting Aβ plasma levels and their utility as biomarkers in ADNI. Acta Neuropathol 2011; 122: 401-413
19. Lambert J-C, Heath S, Even G, Campion D, Sleegers K, Hiltunen M., et al. Genomewide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 2009; 41: 1094-1099
20. Psaty BM, O'Donnell CJ, Gudnason V, Lunetta KL, Folsom AR, Rotter JI., et al. Cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium: design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ Cardiovasc Genet 2009; 2: 73-80
21. Saykin AJ, Shen L, Foroud TM, Potkin SG, Swaminathan S, Kim S., et al. Alzheimer's disease neuroimaging initiative biomarkers as quantitative phenotypes: genetics core aims, progress, and plans. Alzheimers Dement 2010; 6: 265-273
22. Figurski MJ, Waligsrska T, Toledo J, Vanderstichele H, Korecka M, Lee VMY. Alzheimer's Disease Neuroimaging Initiative. Improved protocol for measurement of plasma β-amyloid in longitudinal evaluation of Alzheimer's Disease Neuroimaging Initiative study patients. Alzheimers Dement 2012; 8: 250-260
23. Sergeant N, David J-P, Champain D, Ghestem A, Wattez A, Delacourte A. Progressive decrease of amyloid precursor protein carboxy terminal fragments (APP-CTFs), associated with tau pathology stages, in Alzheimer's disease. J Neurochem 2002; 81: 663-672
24. Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C., et al. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. Mol Psychiatry 2009; 14: 1004-1016
25. R Core Team. R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing: Vienna, Austria, 2012
26. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575
27. Aulchenko YS, Struchalin MV, Duijn CM. ProbABEL package for genome-wide association analysis of imputed data. BMC Bioinformatics 2010; 11: 134
28. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 2010; 26: 2190-2191
29. Viechtbauer W. Conducting meta-analyses in R with the metafor package. J Stat Softw 2010; 36: 1-48
30. Wang J, Duncan D, Shi Z, Zhang B. WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013. Nucleic Acids Res 2013; 41: W77-W83
31. Marambaud P, Chevallier N, Ancolio K, Checler F. Post-transcriptional contribution of a cAMP-dependent pathway to the formation of alpha- and beta/gammasecretases- derived products of beta APP maturation in human cells expressing wild-type and Swedish mutated beta APP. Mol Med 1998; 4: 715-723
32. Su Y, Ryder J, Ni B. Inhibition of Abeta production and APP maturation by a specific PKA inhibitor. FEBS Lett 2003; 546: 407-410
33. Lourenço FC, Galvan V, Fombonne J, Corset V, Llambi F, Müller U, Bredesen DE, Mehlen P. Netrin-1 interacts with amyloid precursor protein and regulates amyloid-beta production. Cell Death Differ 2009; 16: 655-663
34. Rama N, Goldschneider D, Corset V, Lambert J, Pays L, Mehlen P. Amyloid precursor protein regulates netrin-1-mediated commissural axon outgrowth. J Biol Chem 2012; 287: 30014-30023
35. Chen Y, Tang BL. The amyloid precursor protein and postnatal neurogenesis/neuroregeneration. Biochem Biophys Res Commun 2006; 341: 1-5
36. Chasseigneaux S, Allinquant B. Functions of Aβ, sAPPα and sAPPβ: similarities and differences. J Neurochem 2012; 120(Suppl 1): 99-108
37. Lazarov O, Demars MP. All in the family: how the APPs regulate neurogenesis. Front Neurosci 2012; 6: 81
38. Ghersi-Egea JF, Gorevic PD, Ghiso J, Frangione B, Patlak CS, Fenstermacher JD. Fate of cerebrospinal fluid-borne amyloid beta-peptide: rapid clearance into blood and appreciable accumulation by cerebral arteries. J Neurochem 1996; 67: 880-883
39. Vanderstichele H, Van Kerschaver E, Hesse C, Davidsson P, Buyse MA, Andreasen N., et al. Standardization of measurement of beta-amyloid(1-42) in cerebrospinal fluid and plasma. Amyloid 2000; 7: 245-258
40. Kawarabayashi T, Younkin LH, Saido TC, Shoji M, Ashe KH, Younkin SG. Age-dependent changes in brain, CSF, and plasma amyloid (beta) protein in the Tg2576 transgenic mouse model of Alzheimer's disease. J Neurosci 2001; 21: 372-381
41. Mehta PD, Pirttila T, Patrick BA, Barshatzky M, Mehta SP. Amyloid beta protein 1-40 and 1-42 levels in matched cerebrospinal fluid and plasma from patients with Alzheimer disease. Neurosci Lett 2001; 304: 102-106
42. DeMattos RB, Bales KR, Cummins DJ, Paul SM, Holtzman DM. Brain to plasma amyloid-beta efflux: a measure of brain amyloid burden in a mouse model of Alzheimer's disease. Science 2002; 295: 2264-2267
43. Giedraitis V, Sundelöf J, Irizarry MC, Gårevik N, Hyman BT, Wahlund L-O., et al. The normal equilibrium between CSF and plasma amyloid beta levels is disrupted in Alzheimer's disease. Neurosci Lett 2007; 427: 127-131
44. Gavín R, Ferrer I, del Río JA. Involvement of Dab1 in APP processing and betaamyloid deposition in sporadic Creutzfeldt-Jakob patients. Neurobiol Dis 2010; 37: 324-329
45. Kwon OY, Hwang K, Kim J-A, Kim K, Kwon IC, Song HK., et al. Dab1 binds to Fe65 and diminishes the effect of Fe65 or LRP1 on APP processing. J Cell Biochem 2010; 111: 508-519
46. Wang HT, Chang JW, Guo Z, Li BG. In silico-initiated cloning and molecular characterization of cortexin 3, a novel human gene specifically expressed in the kidney and brain, and well conserved in vertebrates. Int J Mol Med 2007; 20: 501-510
47. Singh TD, Park S-Y, Bae J-S, Yun Y, Bae Y-C, Park R-W., et al. MEGF10 functions as a receptor for the uptake of amyloid-β. FEBS Lett 2010; 584: 3936-3942
48. Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager PL., et al. Genomewide association study of the rate of cognitive decline in Alzheimer's disease. Alzheimers Dement 2013; 10: 45-52
49. Ertekin-Taner N, Graff-Radford N, Younkin LH, Eckman C, Baker M, Adamson J., et al. Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. Science 2000; 290: 2303-2304
50. Ertekin-Taner N, Ronald J, Asahara H, Younkin L, Hella M, Jain S. Fine mapping of the alpha-T catenin gene to a quantitative trait locus on chromosome 10 in lateonset Alzheimer's disease pedigrees. Hum Mol Genet 2003; 12: 3133-3143
51. Miyashita A, Arai H, Asada T, Imagawa M, Matsubara E, Shoji M., et al. Genetic association of CTNNA3 with late-onset Alzheimer's disease in females. Hum Mol Genet 2007; 16: 2854-2869
52. Ertekin-Taner N, Ronald J, Feuk L, Prince J, Tucker M, Younkin L., 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 2005; 14: 447-460
53. Papassotiropoulos A, Tsolaki M, Wollmer MA, Molyva D, Thal DR, Huynh K-D., et al. No association of a non-synonymous PLAU polymorphism with Alzheimer's disease and disease-related traits. Am J Med Genet B Neuropsychiatr Genet 2005; 132B: 21-23
54. Ertekin-Taner N, Allen M, Fadale D, Scanlin L, Younkin L, Petersen RC., et al. Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer disease. Hum Mutat 2004; 23: 334-342
55. Carrasquillo MM, Belbin O, Zou F, Allen M, Ertekin-Taner N, Ansari M., et al. Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease. PLoS One 2010; 5: e8764
56. Bartl J, Scholz C-J, Hinterberger M, Jungwirth S, Wichart I, Rainer MK., et al. Disorder-specific effects of polymorphisms at opposing ends of the insulin degrading enzyme gene. BMC Med Genet 2011; 12: 151
57. Reitz C, Cheng R, Schupf N, Lee JH, Mehta PD, Rogaeva E., et al. Association between variants in IDE-KIF11-HHEX and plasma amyloid beta levels. Neurobiol Aging 2012; 33: 199.e13-199.e17
58. Reitz C, Van Rooij FJA, Soares HD, de Maat MPM, Hofman A, Witteman JCM., et al. Matrix metalloproteinase 3 haplotypes and plasma amyloid beta levels: the Rotterdam study. Neurobiol Aging 2010; 31: 715-718
59. Ferreira MAR, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L., et al. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet 2008; 40: 1056-1058
60. Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium. Genome-wide association study identifies five new schizophrenia loci. Nat Genet 2011; 43: 969-976
61. Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P., et al. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Hum Mutat 2012; 33: 1635-1638
62. Su Y, Ryder J, Li B, Wu X, Fox N, Solenberg P., et al. Lithium, a common drug for bipolar disorder treatment, regulates amyloid-beta precursor protein processing. Biochemistry 2004; 43: 6899-6908
63. Qing H, He G, Ly PTT, Fox CJ, Staufenbiel M, Cai F., et al. Valproic acid inhibits Abeta production, neuritic plaque formation, and behavioral deficits in Alzheimer's disease mouse models. J Exp Med 2008; 205: 2781-2789
64. Lahiri DK, Sokol DK, Erickson C, Ray B, Ho CY, Maloney B. Autism as early neurodevelopmental disorder: evidence for an sAPPα-mediated anabolic pathway. Front Cell Neurosci 2013; 7: 94
65. Han M-R, Schellenberg GD, Wang L-S. Alzheimer's Disease Neuroimaging Initiative. Genome-wide association reveals genetic effects on human Abeta42 and Tau protein levels in cerebrospinal fluids: a case control study. BMC Neurol 2010; 10: 90
66. Kim S, Swaminathan S, Shen L, Risacher SL, Nho K, Foroud T., et al. Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. Neurology 2011; 76: 69-79
67. Cruchaga C, Kauwe JSK, Harari O, Jin SC, Cai Y, Karch CM., et al. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron 2013; 78: 256-268
68. Lambert JC, Amouyel P. Genetics of Alzheimer's disease: new evidences for an old hypothesis?. Curr Opin Genet Dev 2011; 21: 295-301
69. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M., et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 2010; 303: 1832-1840
70. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert J-C, Carrasquillo MM., et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 2011; 43: 429-435