DAPK1 variants are associated with Alzheimer's disease and allele-specific expression

Human Molecular Genetics

Volumn 15, Issue 17, 2006, Pages 2560-2568

  Li, Yonghong ^a   Grupe, Andrew ^a   Rowland, Charles ^a   Nowotny, Petra ^b   Kauwe, John S K ^b   Smemo, Scott ^b   Hinrichs, Anthony ^b   Tacey, Kristina ^a   Toombs, Timothy A ^a   Kwok, Shirley ^a   Catanese, Joseph ^a   White, Thomas J ^a   Maxwell, Taylor J ^b   Hollingworth, Paul ^c   Abraham, Richard ^c   Rubinsztein, David C ^d   Brayne, Carol ^e   Wavrant De Vrièze, Fabienne ^f   Hardy, John ^f   O'Donovan, Michael ^c   Lovestone, Simon ^g   Morris, John C ^b   Thal, Leon J ^h   Owen, Michael ^c   Williams, Julie ^c   Goate, Alison ^b   more..

^a CELERA   (United States)

^b WASHINGTON UNIVERSITY   (United States)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f NATIONAL INSTITUTE ON AGING   (United States)

^g KING'S COLLEGE LONDON   (United Kingdom)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEATH ASSOCIATED PROTEIN KINASE; DEATH ASSOCIATED PROTEIN KINASE 1; UNCLASSIFIED DRUG;

ALZHEIMER DISEASE; ARTICLE; CASE CONTROL STUDY; CHROMOSOME 9; CONTROLLED STUDY; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC RISK; GENETIC SIMILARITY; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOTE; HUMAN; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SAMPLE SIZE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; VALIDATION STUDY;

ALLELES; ALZHEIMER DISEASE; APOPTOSIS REGULATORY PROTEINS; BINDING SITES; CA(2+)-CALMODULIN DEPENDENT PROTEIN KINASE; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 9; DATABASES, NUCLEIC ACID; FEMALE; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 33747876259     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl178     Document Type: Article

References (48)

1. Meyer, M.R., Tschanz, J.T., Norton, M.C., Welsh-Bohrner, K.A., Steffens, D.C., Wyse, B.W. and Breitner, J.C. (1998) APOE genotype predicts when-not whether-one is predisposed to develop Alzheimer disease. Nat. Genet., 19, 321-322.
2. Strittmatter, W.J., Saunders, A.M., Schmechel, D., Pericak-Vance, M., Enghild, J., Salvesen, G.S. and Roses, A.D. (1993) Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc. Natl Acad. Sci. USA, 90, 1977-1981.
3. Pastor, P. and Goate, A.M. (2004) Molecular genetics of Alzheimer's disease. Curr. Psychiat. Rep., 6, 125-133.
4. Pericak-Vance, M.A., Grubber, J., Bailey, L.R., Hedges, D., West, S., Santoro, L., Kemmerer, B., Hall, J.L., Saunders, A.M., Roses, A.D. et al. (2000) Identification of novel genes in late-onset Alzheimer's disease. Exp. Gerontol., 35, 1343-1352.
5. Curtis, D., North, B.V. and Sham, P.C. (2001) A novel method of two-locus linkage analysis applied to a genome scan for late onset Alzheimer's disease. Ann. Hum. Genet., 65, 473-481.
6. Myers, A., Wavrant De-Vrieze, F., Holmans, P., Hamshere, M., Crook, R., Compton, D., Marshall, H., Meyer, D., Shears, S., Booth, J. et al. (2002) Full genome screen for Alzheimer disease: Stage II analysis. Am. J. Med. Genet., 114, 235-244.
7. Blacker, D., Bertram, L., Saunders, A.J., Moscarillo, T.J., Albert, M.S., Wiener, H., Perry, R.T., Collins, J.S., Harrell, L.E., Go, R.C. et al. (2003) Results of a high-resolution genome screen of 437 Alzheimer's disease families. Hum. Mol. Genet., 12, 23-32.
8. Olson, J.M., Goddard, K.A. and Dudek, D.M. (2002) A second locus for very-late-onset Alzheimer disease: A genome scan reveals linkage to 20p and epistasis between 20p and the amyloid precursor protein region. Am. J. Hum. Genet., 71, 154-161.
9. Wollmer, M.A., Streffer, J.R., Lutjohann, D., Tsolaki, M., Iakovidou, V., Hegi, T., Pasch, T., Jung, H.H., Bergmann, K, Nitsch, R.M. et al. (2003) ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease. Neurobiol. Aging, 24, 421-426.
10. Bertram, L., Hiltunen, M., Parkinson, M., Ingelsson, M., Lange, C., Ramasamy, K., Mullin, K., Menon, R., Sampson, A.J., Hsiao, M.Y. et al. (2005) Family-based association between Alzheimer's disease and variants in UBQLN1. N. Engl. J. Med., 352, 884-894.
11. Katzov, H., Chalmers, K., Palmgren, J., Andreasen, N., Johansson, B., Cairns, N.J., Gatz, M., Wilcock, G.K., Love, S., Pedersen, N.L. et al. (2004) Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism. Hum. Mutat., 23, 358-367.
12. Li, Y., Tacey, K., Doil, L., van Luchene, R., Garcia, V., Rowland, C., Schrodi, S., Leong, D., Lau, K., Catanese, J. et al. (2004) Association of ABCA1 with late-onset Alzheimer's disease is not observed in a case-control study. Neurosci. Lett., 366, 268-271.
13. Brouwers, N., Sleegers, K., Engelborghs, S., Bogaerts, V., van Duijn, C.M., Paul De Deyn, P., Van Broeckhoven, C. and Dermaut, B. (2006) The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years. Neurosci. Lett., 392, 72-74.
14. Kamboh, M.I., Minster, R.L., Feingold, E. and Dekosky, S.T. (2005) Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures. Mol. Psychiat., 11, 273-279.
15. Slifer, M.A., Martin, E.R., Haines, J.L. and Pericak-Vance, M.A. (2005) The ubiquilin 1 gene and Alzheimer's disease. N. Engl. J. Med., 352, 2752-2753.
16. Smemo, S., Nowotny, P., Hinrichs, A.L., Kauwe, J.S., Cherny, S., Erickson, K., Myers, A.J., Kaleem, M., Marlowe, L., Gibson, A.M. et al. (2006) Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. Ann. Neurol., 59, 21-26.
17. Templeton, A.R., Maxwell, T., Posada, D., Stengard, J.H., Boerwinkle, E. and Sing, C.F. (2005) Tree scanning: A method for using haplotype trees in phenotype/genotype association studies. Genetics, 169, 441-453.
18. Li, M., Boehnke, M. and Abecasis, G.R. (2006) Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. Am. J. Hum. Genet., 78, 778-792.
19. Lohmueller, K.E., Pearce, C.L., Pike, M., Lander, E.S. and Hirschhorn, J.N. (2003) Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat. Genet., 33, 177-182.
20. Skol, A.D., Scott, L.J., Abecasis, G.R. and Boehnke, M. (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat. Genet., 38, 209-203.
21. Yamamoto, M., Takahashi, H., Nakamura, T., Hioki, T., Nagayama, S., Ooashi, N., Sun, X., Ishii, T., Kudo, Y., Nakajima-Iijima, S. et al. (1999) Developmental changes in distribution of death-associated protein kinase mRNAs. J. Neurosci. Res., 58, 674-683.
22. Tian, J.H., Das, S. and Sheng, Z.H. (2003) Ca2+-dependent phosphorylation of syntaxin-1A by the death-associated protein (DAP) kinase regulates its interaction with Munc18. J. Biol. Chem., 278, 26265-26274.
23. Budson, A.E. and Price, B.H. (2005) Memory dysfunction. N. Engl. J. Med., 352, 692-699.
24. Yamamoto, M., Hioki, T., Ishii, T., Nakajima-Iijima, S. and Uchino, S. (2002) DAP kinase activity is critical for C(2)-ceramide-induced apoptosis in PC12 cells. Eur. J. Biochem., 269, 139-147.
25. Pelled, D., Raveh, T., Riebeling, C., Fridkin, M., Berissi, H., Futerman, A.H. and Kimchi, A. (2002) Death-associated protein (DAP) kinase plays a central role in ceramide-induced apoptosis in cultured hippocampal neurons. J. Biol. Chem., 277, 1957-1961.
26. Schori, H., Yoles, E., Wheeler, L.A., Raveh, T., Kimchi, A. and Schwartz, M. (2002) Immune-related mechanisms participating in resistance and susceptibility to glutamate toxicity. Eur. J. Neurosci., 16, 557-564.
27. Martoriati, A., Doumont, G., Alcalay, M., Bellefroid, E., Pelicci, P.G. and Marine, J.C. (2005) dapk1, encoding an activator of a p19ARF-p53-mediated apoptotic checkpoint, is a transcription target of p53. Oncogene, 24, 1461-1466.
28. de la Monte, S.M., Sohn, Y.K. and Wands, J.R. (1997) Correlates of p53-and Fas (CD95)-mediated apoptosis in Alzheimer's disease. J. Neurol. Sci., 152, 73-83.
29. Costa, C.A., Sunyach, C., Pardossi-Piquard, R., Sevalle, J., Vincent, B., Boyer, N., Kawarai, T., Girardot, N., St George-Hyslop, P. and Checler, F. (2006) Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease. J. Neurosci., 26, 6377-6385.
30. Yukawa, K., Tanaka, T., Bai, T., Li, L., Tsubota, Y., Owada-Makabe, K., Maeda, M., Hoshino, K., Akira, S. and Iso, H. (2006) Deletion of the kinase domain from death-associated protein kinase enhances spatial memory in mice. Int. J. Mol. Med., 17, 869-873.
31. Pastinen, T. and Hudson, T.J. (2004) Cis-acting regulatory variation in the human genome. Science, 306, 647-650.
32. Horikawa, Y., Oda, N., Cox, N.J., Li, X., Orho-Melander, M., Hara, M., Hinokio, Y., Lindner, T.H., Mashima, H., Schwarz, P.E. et al. (2000) Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat. Genet., 26, 163-175.
33. Ye, Y. and Fortini, M.E. (1999) Apoptotic activities of wild-type and Alzheimer's disease-related mutant presenilins in Drosophila melanogaster. J. Cell. Biol., 146, 1351-1364.
34. Campbell, W.A., Yang, H., Zetterberg, H., Baulac, S., Sears, J.A., Liu, T., Wong, S.T., Zhong, T.P. and Xia, W. (2006) Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss. J. Neurochem., 96, 1423-1440.
35. Li, Y., Nowotny, P., Holmans, P., Smemo, S., Kauwe, J.S., Hinrichs, A.L., Tacey, K., Doil, L., van Luchene, R., Garcia, V. et al. (2004) Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. Proc. Natl Acad. Sci. USA, 101, 15688-15693.
36. Grupe, A., Li, Y., Rowland, C., Nowotny, P., Hinrichs, A.L., Smemo, S. Kauwe, J.S., Maxwell, T.J., Cherny, S., Doil, L. et al. (2006) A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Am. J. Hum. Genet., 78, 78-88.
37. Velentza, A.V., Wainwright, M.S., Zasadzki, M., Mirzoeva, S., Schumacher, A.M., Haiech, J., Focia, P.J., Egli, M. and Watterson, D.M. (2003) An aminopyridazine-based inhibitor of a pro-apoptotic protein kinase attenuates hypoxia-ischemia induced acute brain injury. Bioorg. Med. Chem. Lett., 13, 3465-3470.
38. Craft, J.M., Watterson, D.M., Frautschy, S.A. and Van Eldik, L.J. (2004) Aminopyridazines inhibit beta-amyloid-induced glial activation and neuronal damage in vivo. Neurobiol. Aging, 25, 1283-1292.
39. Busby, V., Goossens, S., Nowotny, P., Hamilton, G., Smemo, S., Harold, D., Turic, D., Jehu, L., Myers, A., Womick, M. et al. (2004) Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease. Neuromol. Med., 5, 133-146.
40. Li, Y., Hollingworth, P., Moore, P., Foy, C., Archer, N., Powell, J., Nowotny, P., Holmans, P., O'Donovan, M., Tacey, K. et al. (2005) Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease. Hum. Mutat., 25, 270-277.
41. Li, Y., Rowland, C., Tacey, K., Catanese, J., Sninsky, J., Hardy, J., Powell, J., Lovestone, S., Morris, J.C., Thal, L. et al. (2005) The BDNF Va166Met polymorphism is not associated with late onset Alzheimer's disease in three case-control samples. Mol. Psychiat., 10, 809-810.
42. Germer, S., Holland, M.J. and Higuchi, R. (2000) High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR. Genome Res., 10, 258-266.
43. Agresti, A. (1990) Categorical Data Analysis. John Wiley & Sons.
44. Stephens, M. and Donnelly, P. (2003) A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am. J. Hum. Genet., 73, 1162-1169.
45. Stephens, M., Smith, N.J. and Donnelly, P. (2001) A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet., 68, 978-989.
46. Clement, M., Posada, D. and Crandall, K.A. (2000) TCS: A computer program to estimate gene genealogies. Mol. Ecol., 9, 1657-1659.
47. Templeton, A.R., Weiss, K.M., Nickerson, D.A., Boerwinkle, E. and Sing, C.F. (2000) Cladistic structure within the human Lipoprotein lipase gene and its implications for phenotypic association studies. Genetics, 156, 1259-1275.
48. Nowotny, P., Hinrichs, A.L., Smemo, S., Kauwe, J.S., Maxwell, T., Holmans, P., Hamshere, M., Turic, D., Jehu, L., Hollingworth, P. et al. (2005) Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme. Am. J. Med. Genet. B: Neuropsychiatr. Genet., 136, 62-68.