Genetic variation in the tau kinases pathway may modify the risk and age at onset of alzheimer's disease

Journal of Alzheimer's Disease

Volumn 27, Issue 2, 2011, Pages 291-297

  Vázquez Higuera, José Luis ^a   Mateo, Ignacio ^a   Sánchez Juan, Pascual ^a   Rodríguez Rodríguez, Eloy ^a   Pozueta, Ana ^a   Calero, Miguel ^b   Dobato, José Luis ^b   Frank García, Ana ^c   Valdivieso, Fernando ^d   Berciano, José ^a   Bullido, Maria J ^d   Combarros, Onofre ^a  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

Author keywords

Alzheimer's disease; kinases; phosphorylation; polymorphism; tau

Indexed keywords

APOLIPOPROTEIN E4; C JUN N TERMINAL PROTEIN KINASE 2; C JUN N TERMINAL PROTEIN KINASE 3; C JUN N TERMINAL PROTEIN KINASE INTERACTING PROTEIN 1; CALCIUM CALMODULIN DEPENDENT PROTEIN KINASE II; CASEIN KINASE IDELTA; CELL DIVISION CYCLE 2 KINASE; CYCLIC AMP DEPENDENT PROTEIN KINASE; MICROTUBULE AFFINITY REGULATING KINASE 1; MICROTUBULE AFFINITY REGULATING KINASE 2; MICROTUBULE AFFINITY REGULATING KINASE 3; MICROTUBULE AFFINITY REGULATING KINASE 4; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 11; MITOGEN ACTIVATED PROTEIN KINASE 14; MITOGEN ACTIVATED PROTEIN KINASE 3; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; MITOGEN ACTIVATED PROTEIN KINASE P38; PROTEIN KINASE; RIBOSOMAL PROTEIN S6 KINASE 1; RIBOSOMAL PROTEIN S6 KINASE 2; S6 KINASE; STRESS ACTIVATED PROTEIN KINASE 1; TAU PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 81855190647     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2011-110794     Document Type: Article

References (27)

1. Ballatore C, Lee VMY, Trojanowski JQ (2007) Tau-mediated neurodegeneration in Alzheimer's disease and related disorders. Nat Rev Neurosci 8, 663-672. (Pubitemid 47283144)
2. Wang JZ, Liu F (2008) Microtubule-associated protein tau in development, degeneration and protection of neurons. Prog Neurobiol85, 148-175.
3. Iqbal K, Grundke-Iqbal I (2008) Alzheimer neurofibrillary degeneration: Significance, etiopathogenesis, therapeutics and prevention. J Cell Mol Med 12, 38-55. (Pubitemid 351436349)
4. Wang JZ, Grundke-Iqbal I, Iqbal K (2007) Kinases and phosphatases and tau sites involved in Alzheimer neurofibrillary degeneration. Eur J Neurosci 25, 59-68. (Pubitemid 46098893)
5. Garcia-Gorostiaga I, Sanchez-Juan P, Mateo I, Rodriguez-Rodriguez E, Sanchez-Quintana C, Curiel del Olmo S, Vazquez-Higuera JL, Berciano J, Combarros O, Infante J (2009) Glycogen synthase kinase-3fj and tau genes interact in Parkinson's and Alzheimer's diseases. Ann Neurol 65, 759-761.
6. Vazquez-Higuera JL, Mateo I, Sanchez-Juan P, Rodriguez-Rodriguez E, Infante J, Berciano J, Combarros O (2009) No association of CDK5 genetic variants with Alzheimer's disease risk. BMC Med Genet 10, 68.
7. Mateo I, Vazquez-Higuera JL, Sanchez-Juan P, Rodriguez-Rodriguez E, Infante J, Garcia-Gorostiaga I, Berciano. J, Combarros O (2009) Epistasis between tau phosphorylation regulating genes (CDK5R1 and GSK-3 () and Alzheimer's disease risk. Acta Neurol Scand 120, 130-133.
8. Vazquez-Higuera JL, Sanchez-Juan P, Rodriguez-Rodriguez E, Mateo I, Pozueta A, Frank A, Sastre I, Valdivieso F, Berciano J, Bullido MJ, Combarros O (2009) DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort. BMC Med Genet 10, 129.
9. Vazquez-Higuera JL, Martinez-Garcia A, Sanchez-Juan P, Rodriguez-Rodriguez E, Mateo I, Pozueta A, Frank A, Valdivieso F, Berciano. J, Bullido MJ, Combarros O (2011) Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort. Neu-robiol Aging 32, 550. e5-550. e9.
10. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer disease: Report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer Disease. Neurology 24, 939-944. (Pubitemid 14076461)
11. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Ruther E, Schurmann B, Heun R, Kolsch H, van den Bussche H, Heuser I, Kornhuber J, Wilt-fang J, Dichgans M, Frolich L, Hampel H, Gallacher J, Hull M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guer-reiro R, Mühleisen TW, Nothen MM, Moebus S, Jockel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC; the Alzheimer's Disease Neuroimaging Initiative, van Duijn CM, Breteler MM, Ikram MA, Deste-fano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S; CHARGE consortium, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M; EADI1 consortium, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snædal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soini-nen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossù P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galim-berti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 43, 429-435.
12. Wang K, Li M, Bucan M (2007) Pathway-based approaches for analysis of genomewide association studies. Am J Hum Genet 81, 1278-1283. (Pubitemid 350211456)
13. Zhong H, Yang X, Kaplan LM, Molony C, Schadt EE (2010) Integrating pathway analysis and genetics of gene expression for genome-wide association studies. Am J Hum Genet 86, 581-591.
14. Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, SchürmannB, van den Bussche H, Heuser I, Peters O, Kornhuber J, Wiltfang J, Dichgans M, FrölichL, Hampel H, HüllM, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J (2010) Genetic evidence implicates theimmune system and cholesterol metabolism in the aetiologyof Alzheimer's disease. PLoS ONE 5, e13950.
15. Lambert JC, Grenier-Boley B, Chouraki V, Heath S, Zelenika D, Fievet N, Hannequin D, Pasquier F, Hanon O, Brice A, Epelbaum J, Berr C, Dartigues JF, Tzourio C, Campion D, Lathrop M, Amouyel P (2010) Implication of the immunesystem in Alzheimer's disease: Evidence from genome-widepathway analysis. J Alzheimers Dis 20, 1107-1118.
16. Yu NN, Yu JT, Xiao JT, Zhang HW, Lu RC, Jiang H, Xing ZH, Tan L (2011) Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han Chinese. Neurosci Lett 491, 83-86.
17. Helbecque N, Abderrhamani A, Meylan L, Riederer B, Mooser V, Miklossy J, Delplanque J, Boutin P, Nicod P, Hae-fliger JA, Cottel D, Amouyel P, Froguel P, Waeber G (2003) Islet-brain 1/C-Jun N-terminal kinase interacting protein-1 (IB1/JIP-1) promoter variant is associated with Alzheimer's disease. Mol Psychiatry 8, 413-422. (Pubitemid 36609666)
18. Helbecque N, Cottel D, Amouyel P (2009) Low-density lipoprotein receptor-related protein 8 gene polymorphisms and dementia. Neurobiol Aging 30, 266-271.
19. Johansson A, Hampel H, Faltraco F, Buerger K, Minthon L, Bogdanovic N, Sjogren M, Zetterberg H, Forsell L, Lil-ius L, Wahlund LO, Rymo L, Prince JA, Blennow K (2003) Increased frequency of a new polymorphism in the cell division cycle 2 (cdc2) gene in patients with Alzheimer's disease and frontotemporal dementia. Neurosci Lett 340, 69-73. (Pubitemid 36324496)
20. Bosco P, Caraci F, Copani A, Spada RS, Sortino MA, Salluzzo R, Salemi M, Nicoletti F, Ferri R (2007) The CDC2 I-G-T haplotype associated with the APOE e4 allele increases the risk of sporadic Alzheimer's disease in Sicily. Neurosci Lett 419, 195-198. (Pubitemid 46755481)
21. Liang X, Schnetz-Boutaud N, Bartlett J, Anderson BM, Gwirtsman H, Schmechel D, Carney R, Gilbert JR, Pericak-Vance MA, Haines JL (2007) Association analysis of genetic polymorphisms in the CDC2 gene with late-onset Alzheimer disease. Dement Geriatr Cogn Disord 23, 126-132. (Pubitemid 46105704)
22. Pei JJ, Braak H, Gong CX, Grundke-Iqbal I, Iqbal K, Winblad B, Cowburn RF (2002) Up-regulation of cell division cycle (cdc) 2 kinase in neurons with early stage Alzheimer's disease neurofibrillary degeneration. Acta Neuropathol 104, 369-376. (Pubitemid 36075401)
23. An WL, Cowburn RF, Li L, Braak H, Alafuzoff I, Iqbal K, Grundke-Iqbal I, Winblad B, Pei JJ (2003) Up-regulation of phosphorylated/activated p70 S6 kinase and its relationship to neurofibrillary pathology in Alzheimer's disease. Am J Pathol 163, 591-607. (Pubitemid 36909421)
24. Zhang N, Yu JT, Yang Y, Yang J, Zhang W, Tan L (2011) Association analysis of GSK3B and MAPT polymorphisms with Alzheimer's disease in Han Chinese. Brain Res 1391, 147-153.
25. Kwok JBJ, Loy CT, Hamilton G, Lau E, Hallupp M, Williams J, Owen MJ, Broe A, Tang N, Lam L, Powell JF, Lovestone S, Schofield PR (2008) Glycogen synthase kinase-3 fj and tau genes interact in Alzheimer's disease. Ann Neurol 64, 446-454.
26. Arias-Vasquez A, Aulchenko YS, Isaacs A, van Oosterhout A, Sleegers K, Hofman A, van Broeckhoven C, Oostra BA, Breteler M, van Duijn CM (2008) Cyclin-dependent kinase 5 is associated with risk for Alzheimer's disease in a Dutch population-based study. J Neurol 255, 655-662.
27. Kimura R, Kamino K, Yamamoto M, Nuripa A, Kida T, Kazui H, Hashimoto R, Tanaka T, Kudo T, Yamagata H, Tabara Y, Miki T, Akatsu H, Kosaka K, Funakoshi E, Nishitomi K, Sak-aguchi G, Kato A, Hattori H, Uema T, Takeda M (2007) The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between fj-amyloid production and tau phosphorylation in Alzheimer disease. Hum Mol Genet 16, 15-23. (Pubitemid 46152541)