Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia

Human Molecular Genetics

Volumn 16, Issue 3, 2007, Pages 295-306

  Sundar, Purnima Desai ^a,b   Yu, Chang En ^a,b   Sieh, Weiva ^a   Steinbart, Ellen ^a,b   Garruto, Ralph M ^c   Oyanagi, Kiyomitsu ^d   Craig, Ulla Katrina ^e   Bird, Thomas D ^a,b   Wijsman, Ellen M ^a   Galasko, Douglas R ^f   Schellenberg, Gerard D ^a,b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^c BINGHAMTON UNIVERSITY   (United States)

^d TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^e UNIVERSITY OF GUAM   (Guam)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; TAU PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; DEGENERATIVE DISEASE; DEMENTIA; GENE DELETION; GENE EXPRESSION REGULATION; GENE INSERTION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GUAM; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; INDIGENOUS PEOPLE; MAJOR CLINICAL STUDY; NEUROFIBRILLARY TANGLE; PARKINSONISM; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; PROTEIN PHOSPHORYLATION; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; DEMENTIA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GUAM; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; PARKINSONIAN DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; TAU PROTEINS;

EID: 33847406346     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl463     Document Type: Article

References (73)

1. Kurland, L.T. and Mulder, D.W. (1954) Epidemiologic investigations of amyotrophic lateral sclerosis. 1. Preliminary report on the geographic distribution, with special reference to the Mariana Islands, including clinical and pathologic observations. Neurology, 4, 355-378.
2. Rodgers-Johnson, P., Garruto, R.M., Yanagihara, R., Chen, K.-M., Gajdusek, D.C. and Gibbs, C.J. (1986) Amyotrophic lateral sclerosis and parkinsonism-dementia complex on Guam: A 30-year evaluation of clinical and neuropathologic trends. Neurology, 36, 7-13.
3. Hirano, A., Arumugasamy, N. and Zimmerman, H.M. (1967) Amyotrophic lateral sclerosis. A comparison of Guam and classical cases. Arch. Neurol., 16, 357-363.
4. Hirano, A., Malamud, N., Elizan, T.S. and Kurland, L.T. (1966) Amyotrophic lateral sclerosis and Parkinsonism-dementia complex on Guam. Further pathologic studies. Arch. Neurol., 15, 35-51.
5. Hof, P.R., Nimchinsky, E.A., Buee-Scherrer, V., Buee, L., Nasrallah, J., Hottinger, A.F., Purohit, D.P., Loerzel, A.J., Steele, J.C., Delacourte, A. et al. (1994) Amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam: Quantitative neuropathology, immunohistochemical analysis of neuronal vulnerability, and comparison with related neurodegenerative disorders. Acta. Neuropathol., 88, 397-404.
6. Malamud, N., Hirano, A. and Kurland, L.T. (1961) Pathoanatomic changes in amyotrophic lateral sclerosis on Guam. Neurology, 5, 401-414.
7. Hirano, A., Kurland, L.I.T., Krooth, R.S. and Lessell, S. (1961) Parkinson-dementia complex, an endemic disease on the island of Guam. I. Clinical features. Brain, 84, 642-661.
8. Hof, P.R. and Perl, D.P. (2002) Neurofibrillary tangles in the primary motor cortex in Guamanian amyotrophic lateral sclerosis/ parkinsonism-dementia complex. Neurosci. Lett., 328, 294-298.
9. Hirano, A., Malamud, N. and Kurland, L.I.T. (1961) Parkinson-dementia complex, an endemic disease on the island of Guam. II. Pathological features. Brain, 84, 662-679.
10. Matsumoto, S., Hirano, A. and Goto, S. (1990) Spinal cord neurofibrillary tangles of Guamanian amyotrophic lateral sclerosis and parkinsonism-dementia complex: An immunohistochemical study. Neurology, 40, 975-979.
11. Kato, S., Hirano, A., Llena, J.F., Ito, H. and Yen, S.H. (1992) Ultrastructural identification of neurofibrillary tangles in the spinal cords in Guamanian amyotrophic lateral sclerosis and parkinsonism-dementia complex on Guam. Acta. Neuropathol., 83, 277-282.
12. Galasko, D., Salmon, D., Craig, U.K., Perl, D.P. and Schellenberg, G. (2002) Clinical features and changing patterns of neurodegenerative disorders on Guam, 1997-2000. Neurology, 59, 1121.
13. Galasko, D., Salmon, D.P., Olichney, J. et al. (2003) Diverse types of pathology underlie dementia in older Chamorros on Guam. Neurology, 60 (Suppl. 1), A329-A330.
14. Koerner, D.R. (1952) Amyotrophic lateral sclerosis on Guam: A clinical study and review of the literature. Ann. Int. Med., 37, 1204-1220.
15. Kurland, L.T. and Mulder, D.W. (1955) Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. Part II. Neurology, 5, 249-268.
16. Kurland, L.T. and Mulder, D.W. (1955) Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. Part I. Neurology, 5, 182-196.
17. Kurland, L.T. and Mulder, D.W. (1955) Epidemiologic investigations of amyotrophic lateral sclerosis. Neurology, 4, 438-448.
18. Plato, C.C., Cruz, M.T. and Kurland, L.T. (1969) Amyotrophic lateral sclerosis/Parkinsonism dementia complex of Guam: Further genetic investigations. Am. J. Hum. Genet., 21, 133-141.
19. Bailey-Wilson, J.E., Plato, C.C., Elston, R.C. and Garruto, R.M. (1993) Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and Parkinsonism-dementia in the Western Pacific. Am. J. Med. Genet., 45, 68-76.
20. Plato, C.C., Galasko, D., Garruto, R.M., Plato, M., Gamst, A., Craig, U.K., Torres, J.M. and Wiederholt, W. (2002) ALS and PDC of Guam - forty-year follow-up. Neurology, 58, 765-773.
21. Itoh, N., Ishiguro, K., Arai, H., Kokubo, Y., Sasaki, R., Narita, Y. and Kuzuhara, S. (2003) Biochemical and ultrastructural study of neurofibrillary tangles in amyotrophic lateral sclerosis/ parkinsonism-dementia complex in the Kii peninsula of Japan. J. Neuropath. Exp. Neurol., 62, 791-798.
22. Kokubo, Y. and Kuzuhara, S. (2004) Neurofibrillary tangles in ALS and parkinsonism-dementia complex focus in Kii, Japan. Neurology, 63, 2399-2401.
23. Kokubo, Y., Kuzuhara, S. and Narita, Y. (2000) Geographic distribution of amyotrophic lateral sclerosis with neurofibrillary tangles in the Kii peninsula of Japan. J. Neurol., 415, 850-852.
24. Kuzuhara, S., Kokubo, Y., Sasaki, R., Narita, Y., Yabana, T., Hasegawa, M. and Iwatsubo, T. (2001) Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii peninsula of Japan: Clinical and neuropathological study and tau analysis. Ann. Neurol., 49, 501-511.
25. Yase, Y. (1970) Neurologic disease in the western Pacific islands, with a report on the foci of amyotrophic lateral sclerosis found in the Kii peninsula, Japan. Am. J. Trop. Med. Hyg., 19, 155-166.
26. Garruto, R.M., Yanagihara, R. and Gajdusek, D.C. (1985) Disappearance of high-incidence amyotrophic lateral sclerosis and parkinsonism-dementia on Guam. Neurology, 35, 193-198.
27. Spencer, P.S., Nunn, P.B., Hugon, J., Ludolph, A.C., Ross, S.M., Roy, D.N. and Robertson, R.C. (1987) Guam amyotrophic lateral sclerosis-parkinsonism-dementia linked to plan excitant Neurotoxin. Science, 237, 517-522.
28. Poorkaj, P., Bird, T.D., Wijsman, E., Nemens, E., Garruto, R.M., Anderson, L., Andreadis, A., Wiederholt, W.C., Raskind, M. and Schellenberg, G.D. (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann. Neurol., 43, 815-825.
29. Spillantini, M.G., Murrell, J.R., Goedert, M., Farlow, M.R., Klug, A. and Ghetti, B. (1998) Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci. U.S.A., 95, 7737-7741.
30. Hutton, M., Lendon, C.L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A. et al. (1998) Association of missense and 50-splice-site mutations in tau with the inherited dementia FTDP-17. Nature, 393, 702-705.
31. Perez-Tur, J., Buee, L., Morris, H.R., Waring, S.C., Onstead, L., Wavrant-De Vrieze, F., Crook, R., Buee-Scherrer, V., Hof, P.R., Petersen, R.C. et al. (1999) Neurodegenerative diseases of Guam: analysis of Tau. Neurology, 53, 411-413.
32. Poorkaj, P., Tsuang, D., Wijsman, E.M., Nemens, E., Garruto, R.M., Craig, U., Anderson, L.-J., Bird, T.D., Plato, C.C., Weiderholt, W. et al. (2001) Tau is a susceptibility gene for amyotropic lateral sclerosisparkinsonism dementia complex of Guam. Arch. Neurol., 58, 1871-1878.
33. Morris, H.R., Steele, J.C., Crook, R., Wavrant-De Vrieze, F., OnsteadCardinale, L., GwinnHardy, K., Wood, N.W., Farrer, M., Lees, A.J., McGeer, P.L. et al. (2004) Genome-wide analysis of the Parkinsonism-dementia complex of Guam. Arch. Neurol., 61, 1889-1897.
34. Conrad, C., Andreadis, A., Trojanowski, J., Dickson, D., Kang, D., Chen, X., Wiederholt, W., Hansen, L., Masliah, E., Thal, L. et al. (1997) Genetic evidence for the involvement of Tau in progressive supranuclear palsy. Ann. Neurol., 41, 277-281.
35. Pastor, P., Ezquerra, M., Perez, J.C., Chakraverty, S., Norton, J., Racette, B.A., McKeel, D., Perlmutter, J.S., Tolosa, E. and Goate, A.M. (2004) Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. Ann. Neurol., 56, 249-258.
36. Pittman, A.M., Myers, A.J., Duckworth, J., Bryden, L., Hanson, M., Abou-Sleiman, P., Wood, N.W., Hardy, J., Lees, A. and de Silva, R. (2004) The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum. Mol. Genet., 13, 1267-1274.
37. Hughes, A., Mann, D. and Pickering-Brown, S. (2003) Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Exp. Neurol., 181, 12-16.
38. Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E. and Hutton, M. (1999) Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Mol. Genet., 8, 711-715.
39. Higgins, J.J., Golbe, L.I., Debiase, A., Jankovic, J., Factor, S.A. and Adler, R.L. (2000) An extended 50-tau susceptibility haplotype in progressive supranuclear palsy. Neurology, 55, 1364-1367.
40. Di Maria, E., Tabaton, M., Vigo, T., Abbruzzese, G., Bellone, E., Donati, C., Frasson, E., Marchese, R., Montagna, P., Munoz, D.G. et al. (2000) Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann. Neurol., 47, 374-377.
41. Houlden, H., Baker, M., Morris, H.R., MacDonald, N., Pickering-Brown, S., Adamson, J., Lees, A.J., Rossor, M.N., Quinn, N.P., Kertesz, A. et al. (2001) Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology, 56, 1702-1706.
42. Myers, A.J., Kaleem, M., Marlowe, L., Pittman, A.M., Lees, A.J., Fung, H.C., Duckworth, J., Leung, D., Gibson, A., Morris, C.M. et al. (2005) The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Hum. Mol. Genet., 14, 2399-2404.
43. Rademakers, R., Melquist, S., Cruts, M., Theuns, J., Del-Favero, J., Poorkaj, P., Baker, M., Sleegers, K., Crook, R., De Pooter, T. et al. (2005) High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum. Mol. Genet., 14, 3281-3292.
44. Pittman, A.M., Myers, A.J., Abou-Sleiman, P., Fung, H.C., Kaleem, M., Marlowe, L., Duckworth, J., Leung, D., Williams, D., Kilford, L. et al. (2005) Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J. Med. Genet., 42, 837-846.
45. Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V.G. et al. (2005) A common inversion under selection in Europeans. Nat. Genet., 37, 129-137.
46. Skipper, L., Wilkes, K., Toft, M., Baker, M., Lincoln, S., Hulihan, M., Ross, O.A., Hutton, M., Aasly, J. and Farrer, M. (2004) Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am. J. Hum. Genet., 75, 669-677.
47. Schaid, D.J. and Jacobsen, S.J. (1999) Biased tests of association: comparisons of allele frequencies when departing from Hardy-Weinberg proportions. Am. J. Epidemiol., 149, 706-711.
48. Poorkaj, P., Kas, A., D'Souza, I., Zhou, Y., Pham, O., Olson, M.V. and Schellenberg, G.D. (2001) A genomic sequence analysis of the mouse and human microtubule-associated protein tau. Mamm. Genome, 12, 700-712.
49. Andreadis, A. (2005) Tau gene alternative splicing: Expression patterns, regulation and modulation of function in normal brain and neurodegenerative diseases. Biochim. Biophys. Acta., 1739, 91-103.
50. D'Souza, I., Poorkaj, P., Hong, M., Nochlin, D., Lee, V.M.Y., Bird, T.D. and Schellenberg, G.D. (1999) Missense and silent tau gene mutations cause front temporal dementia with parkinsonism - chromosome 17 type by affecting multiple alternative RNA splicing regulatory elements. Proc. Natl Acad. Sci. USA, 96, 5598-5603.
51. Friedmann, E., Lemberg, M.K., Weihofen, A., Dev, K.K., Dengler, U., Rovelli, G. and Martoglio, B. (2004) Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins. J. Biol. Chem., 279, 50790-50798.
52. Cox, P.A. and Sacks, O.W. (2002) Cycad neurotoxins, consumption of flying foxes, and ALS-PDC disease in Guam. Neurology, 58, 956-959.
53. Duncan, M.W., Steele, J.C., Kopin, I.J. and Markey, S.P. (1990) 2-amino-3-(methylamino)-propanoic acid (BMAA) in cycad flour: An unlikely cause of amyotrophic lateral sclerosis and parkinsonism-dementia of Guam. Neurology, 40, 767-772.
54. Garruto, R.M., Yanagihara, R. and Gajdusek, D.C. (1988) Cycads and amyotrophic lateral sclerosis/parkinsonism dementia. Lancet, ii, 1079.
55. Duncan, M., Kopin, I.J., Garruto, R.M., Lavine, L. and Markey, S.P. (1988) 2-Amino-3 (methylamino)-propionic acid in cycad-derived foods is an unlikely cause of amyotrophic lateral sclerosis/parkinsonism. Lancet, ii, 631-632.
56. Farrer, L.A., Cupples, L.A., Haines, J.L., Hyman, B., Kukull, W.A., Mayeux, R., Myers, R.H., Pericak-Vance, M.A., Risch, N. and Van Duijn, C.M. (1997) Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: A meta-analysis. JAMA, 278, 1349-1356.
57. Clark, L.N., Levy, G., Tang,M.X.,Mejia-Santana, H., Ciappa, A., Tycko, B., Cote, L.J., Louis, E.D., Mayeux, R. and Marder, K. (2003) The Saitohin 'Q7R' polymorphism and tau haplotype in multi-ethnic Alzheimer disease and Parkinson's disease cohorts. Neurosci. Lett., 347, 17-20.
58. Russ, C., Powell, J.F., Zhao, J.H., Baker, M., Hutton, M., Crawford, F., Mullan, M., Roks, G., Cruts, M. and Lovestone, S. (2001) The microtubule associated protein Tau gene and Alzheimer's disease - an association study and meta-analysis. Neurosci. Lett., 314, 92-96.
59. Green, E.K., Thaker, U., McDonagh, A.M., Iwatsubo, T., Lambert, J.C., Chartier Harlin, M.C., Harris, J.M., Pickering-Brown, S.M., Lendon, C.L. and Mann, D.M.A. (2002) A polymorphism within intron 11 of the tau gene is not increased in frequency in patients with sporadic Alzheimer's disease, nor does it influence the extent of tau pathology in the brain. Neurosci. Lett., 324, 113-116.
60. Streffer, J.R., Papassotiropoulos, A., Kurosinski, P., Signorell, A., Wollmer, M.A., Tsolaki, M., Iakovidou, V., Horndli, F., Bosset, J., Gotz, J. et al. (2003) Saitohin gene is not associated with Alzheimer's disease. J. Neurol. Neurosurg. Psychiatry, 74, 362-363.
61. Verpillat, P., Richard, S., Hannequin, D., Dubois, B., Bou, J., Camuzat, A., Pradier, L., Frebourg, T., Brice, A., Clerget-Darpoux, F. et al. (2002) Is the saitohin gene involved in neurodegenerative diseases? Ann. Neurol., 52, 829-832.
62. Oliveira, S.A., Martin, E.R., Scott, W.K., Nicodemus, K.K., Small, G.W., Schmechel, D.E., Doraiswamy, P.M., Roses, A.D., Saunders, A.M., Gilbert, J.R. et al. (2003) The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease. Neurosci. Lett., 347, 143-146.
63. Cook, L., Brayne, C.E., Easton, D., Evans, J.G., Xuereb, J., Cairns, N.J. and Rubinsztein, D.C. (2002) No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease. Ann. Neurol., 52, 690-691.
64. Kwon, J.M., Nowotny, P., Shah, P.K., Chakraverty, S., Norton, J., Morris, J.C. and Goate, A.M. (2000) Tau polymorphisms are not associated with Alzheimer's disease. Neurosci. Lett., 284, 77-80.
65. Tanahashi, H., Asada, T. and Tabira, T. (2004) Association between tau polymorphism and male early-onset Alzheimer's disease. Neuroreport, 15, 175-179.
66. Combarros, O., Rodero, L., Infante, J., Palacio, E., Llorca, J., Fernandez-Viadero, C., Pena, N. and Berciano, J. (2003) Age-dependent association between the Q7R polymorphism in the saitohin gene and sporadic Alzheimer's disease. Dement. Geriat. Cog. Disord., 16, 132-135.
67. Conrad, C., Vianna, C., Freeman, M. and Davies, P. (2002) A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease. Proc. Natl Acad. Sci. USA, 99, 7751-7756.
68. Bullido, M.J., Aldudo, J., Frank, A., Coria, F., Avila, J. and Valdivieso, F. (2000) A polymorphism in the tau gene associated with risk for Alzheimer's disease. Neurosci. Lett., 278, 49-52.
69. Peplonska, B., Zekanowski, C., Religa, D., Czyzewski, K., Styczynska, M., Pfeffer, A., Gabryelewicz, T., Golebiowski, M., Luczywek, E., Wasiak, B. et al. (2003) Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population. Neurosci. Lett., 348, 163-166.
70. McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D. and Stadlan, E.M. (1984) Clinical diagnosis of Alzheimer's disease: Report on the NINCDS-ADRDA work group under the auspices of the Department of Human Services Task Force on Alzheimer's disease. Neurology, 34, 939-944.
71. Hixson, J.E. and Vernier, D.T. (1990) Restriction isotyping of human apolipoprotien E by gene amplification and cleavage with HhaI. J. Lipid Res., 31, 545-548.
72. Lewontin, R.C. (1988) On measures of gametic disequilibrium. Genetics, 120, 849-852.
73. Goddard, K.A.B., Yu, C.E., Oshima, J., Miki, T., Nakura, J., Piussan, C., Martin, G.M., Schellenberg, G.D., Wijsman, E.M., Brown, W.T. et al. (1996) Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: Lessons learned from analysis of 35 chromoso e 8p11.1-21.1 markers. Am. J. Hum. Genet., 58, 1286-1302.