Alzheimer Disease
C. M. Karch, Ezerskiy, L. A., Bertelsen, S., and Goate, A. M.,
“Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.”,
PLoS One, vol. 11, no. 2, p. e0148717, 2016.
M. Saleh, Vaillancourt, J. P., Graham, R. K., Huyck, M., Srinivasula, S. M., Alnemri, E. S., Steinberg, M. H., Nolan, V., Baldwin, C. T., Hotchkiss, R. S., Buchman, T. G., Zehnbauer, B. A., Hayden, M. R., Farrer, L. A., Roy, S., and Nicholson, D. W.,
“Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms.”,
Nature, vol. 429, no. 6987, pp. 75-9, 2004.
R. C. Green, L Cupples, A., Go, R., Benke, K. S., Edeki, T., Griffith, P. A., Williams, M., Hipps, Y., Graff-Radford, N., Bachman, D., and Farrer, L. A.,
“Risk of dementia among white and African American relatives of patients with Alzheimer disease.”,
JAMA, vol. 287, no. 3, pp. 329-36, 2002.
D. A. Bennett, Schneider, J. A., Arvanitakis, Z., and Wilson, R. S.,
“Overview and findings from the religious orders study.”,
Curr Alzheimer Res, vol. 9, no. 6, pp. 628-45, 2012.
P. - T. Xu, Li, Y. - J., Qin, X. - J., Scherzer, C. R., Xu, H., Schmechel, D. E., Hulette, C. M., Ervin, J., Gullans, S. R., Haines, J., Pericak-Vance, M. A., and Gilbert, J. R.,
“Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.”,
Neurobiol Dis, vol. 21, no. 2, pp. 256-75, 2006.
P. Hollingworth, Harold, D., Sims, R., Gerrish, A., Lambert, J. - C., Carrasquillo, M. M., Abraham, R., Hamshere, M. L., Pahwa, J. Singh, 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, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Holmes, C., Mann, D., A Smith, D., Beaumont, H., Warden, D., Wilcock, G., Love, S., Kehoe, P. G., Hooper, N. M., Vardy, E. R. L. C., Hardy, J., Mead, S., Fox, N. C., Rossor, M., Collinge, J., Maier, W., Jessen, F., Rüther, E., Schürmann, B., Heun, R., Kölsch, H., van den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Gallacher, J., Hüll, M., Rujescu, D., Giegling, I., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Sleegers, K., Bettens, K., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K. - H., Klopp, N., Wichmann, H. - E., V Pankratz, S., Sando, S. B., Aasly, J. O., Barcikowska, M., Wszolek, Z. K., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., van Duijn, C. M., Breteler, M. M. B., M Ikram, A., DeStefano, A. L., Fitzpatrick, A. L., Lopez, O., Launer, L. J., Seshadri, S., Berr, C., Campion, D., Epelbaum, J., Dartigues, J. - F., Tzourio, C., Alpérovitch, A., Lathrop, M., Feulner, T. M., Friedrich, P., Riehle, C., Krawczak, M., Schreiber, S., Mayhaus, M., Nicolhaus, S., Wagenpfeil, S., Steinberg, S., Stefansson, H., Stefansson, K., Snaedal, J., Björnsson, S., Jonsson, P. V., Chouraki, V., Genier-Boley, B., Hiltunen, M., Soininen, H., Combarros, O., Zelenika, D., Delepine, M., Bullido, M. J., 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., Galimberti, D., Brice, A., Hannequin, D., Licastro, F., Jones, L., Holmans, P. A., Jonsson, T., Riemenschneider, M., Morgan, K., Younkin, S. G., Owen, M. J., O'Donovan, M., Amouyel, P., and Williams, J.,
“Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.”,
Nat Genet, vol. 43, no. 5, pp. 429-35, 2011.
Y. - J. Li, Scott, W. K., Zhang, L., Lin, P. - I., Oliveira, S. A., Skelly, T., Doraiswamy, M. P., Welsh-Bohmer, K. A., Martin, E. R., Haines, J. L., Pericak-Vance, M. A., and Vance, J. M.,
“Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases.”,
Neurobiol Aging, vol. 27, no. 8, pp. 1087-93, 2006.
N. Ertekin-Taner, Ronald, J., Feuk, L., Prince, J., Tucker, M., Younkin, L., Hella, M., Jain, S., Hackett, A., Scanlin, L., Kelly, J., Kihiko-Ehman, M., Neltner, M., Hersh, L., Kindy, M., Markesbery, W., Hutton, M., de Andrade, M., Petersen, R. C., Graff-Radford, N., Estus, S., Brookes, A. J., and Younkin, S. G.,
“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, vol. 14, no. 3, pp. 447-60, 2005.
M. I. Kamboh, Barmada, M. M., Demirci, F. Y., Minster, R. L., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Saykin, A. J., Sweet, R. A., Feingold, E., DeKosky, S. T., and Lopez, O. L.,
“Genome-wide association analysis of age-at-onset in Alzheimer's disease.”,
Mol Psychiatry, vol. 17, no. 12, pp. 1340-6, 2012.
A. J. Myers, Marshall, H., Holmans, P., Compton, D., Crook, R. J. P., Mander, A. P., Nowotny, P., Smemo, S., Dunstan, M., Jehu, L., Wang, J. C., Hamshere, M., Morris, J. C., Norton, J., Chakraventy, S., Tunstall, N., Lovestone, S., Petersen, R., O'Donovan, M., Jones, L., Williams, J., Owen, M. J., Hardy, J., and Goate, A.,
“Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD.”,
Am J Med Genet B Neuropsychiatr Genet, vol. 124B, no. 1, pp. 29-37, 2004.
R. S. Desikan, Fan, C. Chieh, Wang, Y., Schork, A. J., Cabral, H. J., L Cupples, A., Thompson, W. K., Besser, L., Kukull, W. A., Holland, D., Chen, C. - H., Brewer, J. B., Karow, D. S., Kauppi, K., Witoelar, A., Karch, C. M., Bonham, L. W., Yokoyama, J. S., Rosen, H. J., Miller, B. L., Dillon, W. P., Wilson, D. M., Hess, C. P., Pericak-Vance, M., Haines, J. L., Farrer, L. A., Mayeux, R., Hardy, J., Goate, A. M., Hyman, B. T., Schellenberg, G. D., McEvoy, L. K., Andreassen, O. A., and Dale, A. M.,
“Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.”,
PLoS Med, vol. 14, no. 3, p. e1002258, 2017.
G. McKhann, Drachman, D., Folstein, M., Katzman, R., Price, D., and Stadlan, E. M.,
“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, vol. 34, no. 7, pp. 939-44, 1984.
C. Cruchaga, Karch, C. M., Jin, S. Chih, Benitez, B. A., Cai, Y., Guerreiro, R., Harari, O., Norton, J., Budde, J., Bertelsen, S., Jeng, A. T., Cooper, B., Skorupa, T., Carrell, D., Levitch, D., Hsu, S., Choi, J., Ryten, M., Sassi, C., Brás, J., Gibbs, R. J., Hernandez, D. G., Lupton, M. K., Powell, J., Forabosco, P., Ridge, P. G., Corcoran, C. D., Tschanz, J. A. T., Norton, M. C., Munger, R. G., Schmutz, C., Leary, M., F Demirci, Y., Bamne, M. N., Wang, X., Lopez, O. L., Ganguli, M., Medway, C., Turton, J., Lord, J., Braae, A., Barber, I., Brown, K., Pastor, P., Lorenzo-Betancor, O., Brkanac, Z., Scott, E., Topol, E., Morgan, K., Rogaeva, E., Singleton, A., Hardy, J., M Kamboh, I., St George-Hyslop, P., Cairns, N., Morris, J. C., Kauwe, J. S. K., and Goate, A. M.,
“Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.”,
Nature, vol. 505, no. 7484, pp. 550-554, 2014.
P. Nowotny, Hinrichs, A. L., Smemo, S., Kauwe, J. S. K., Maxwell, T., Holmans, P., Hamshere, M., Turic, D., Jehu, L., Hollingworth, P., Moore, P., Bryden, L., Myers, A., Doil, L. M., Tacey, K. M., Gibson, A. M., McKeith, I. G., Perry, R. H., Morris, C. M., Thal, L., Morris, J. C., O'Donovan, M. C., Lovestone, S., Grupe, A., Hardy, J., Owen, M. J., Williams, J., and Goate, A.,
“Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme.”,
Am J Med Genet B Neuropsychiatr Genet, vol. 136B, no. 1, pp. 62-8, 2005.
M. Malik, Chiles, J., Xi, H. S., Medway, C., Simpson, J., Potluri, S., Howard, D., Liang, Y., Paumi, C. M., Mukherjee, S., Crane, P., Younkin, S., Fardo, D. W., and Estus, S.,
“Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia.”,
Hum Mol Genet, vol. 24, no. 12, pp. 3557-70, 2015.
S. Swaminathan, Huentelman, M. J., Corneveaux, J. J., Myers, A. J., Faber, K. M., Foroud, T., Mayeux, R., Shen, L., Kim, S., Turk, M., Hardy, J., Reiman, E. M., and Saykin, A. J.,
“Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.”,
PLoS One, vol. 7, no. 12, p. e50640, 2012.
Y. Trembath, Rosenberg, C., Ervin, J. F., Schmechel, D. E., Gaskell, P., Pericak-Vance, M., Vance, J., and Hulette, C. M.,
“Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease.”,
Acta Neuropathol, vol. 105, no. 5, pp. 484-8, 2003.
Z. Li, Del-Aguila, J. L., Dube, U., Budde, J., Martinez, R., Black, K., Xiao, Q., Cairns, N. J., Dougherty, J. D., Lee, J. - M., Morris, J. C., Bateman, R. J., Karch, C. M., Cruchaga, C., and Harari, O.,
“Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.”,
Genome Med, vol. 10, no. 1, p. 43, 2018.
A. Akomolafe, Lunetta, K. L., Erlich, P. M., Cupples, L. A., Baldwin, C. T., Huyck, M., Green, R. C., and Farrer, L. A.,
“Genetic association between endothelial nitric oxide synthase and Alzheimer disease.”,
Clin Genet, vol. 70, no. 1, pp. 49-56, 2006.
J. H. Lee, Barral, S., Cheng, R., Chacon, I., Santana, V., Williamson, J., Lantigua, R., Medrano, M., Jimenez-Velazquez, I. Z., Stern, Y., Tycko, B., Rogaeva, E., Wakutani, Y., Kawarai, T., St George-Hyslop, P., and Mayeux, R.,
“Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease.”,
Neurogenetics, vol. 9, no. 1, pp. 51-60, 2008.
R. S. Desikan, Schork, A. J., Wang, Y., Thompson, W. K., Dehghan, A., Ridker, P. M., Chasman, D. I., McEvoy, L. K., Holland, D., Chen, C. - H., Karow, D. S., Brewer, J. B., Hess, C. P., Williams, J., Sims, R., O'Donovan, M. C., Choi, S. Hoan, Bis, J. C., M Ikram, A., Gudnason, V., DeStefano, A. L., van der Lee, S. J., Psaty, B. M., van Duijn, C. M., Launer, L., Seshadri, S., Pericak-Vance, M. A., Mayeux, R., Haines, J. L., Farrer, L. A., Hardy, J., Ulstein, I. Dina, Aarsland, D., Fladby, T., White, L. R., Sando, S. B., Rongve, A., Witoelar, A., Djurovic, S., Hyman, B. T., Snaedal, J., Steinberg, S., Stefansson, H., Stefansson, K., Schellenberg, G. D., Andreassen, O. A., and Dale, A. M.,
“Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease.”,
Circulation, vol. 131, no. 23, pp. 2061-2069, 2015.
K. - L. Huang, Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. Chih, Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., Chouraki, V., Grenier-Boley, B., Bellenguez, C., Deming, Y., McKenzie, A., Raj, T., Renton, A. E., Budde, J., Smith, A., Fitzpatrick, A., Bis, J. C., DeStefano, A., Adams, H. H. H., M Ikram, A., van der Lee, S., Del-Aguila, J. L., Fernández, M. Victoria, Ibañez, L., Sims, R., Escott-Price, V., Mayeux, R., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Lambert, J. Charles, van Duijn, C., Launer, L., Seshadri, S., Williams, J., Amouyel, P., Schellenberg, G. D., Zhang, B., Borecki, I., Kauwe, J. S. K., Cruchaga, C., Hao, K., and Goate, A. M.,
“A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.”,
Nat Neurosci, vol. 20, no. 8, pp. 1052-1061, 2017.
J. Mez, Mukherjee, S., Thornton, T., Fardo, D. W., Trittschuh, E., Sutti, S., Sherva, R., Kauwe, J. S., Naj, A. C., Beecham, G. W., Gross, A., Saykin, A. J., Green, R. C., and Crane, P. K.,
“The executive prominent/memory prominent spectrum in Alzheimer's disease is highly heritable.”,
Neurobiol Aging, vol. 41, pp. 115-121, 2016.
Y. Le Guen, Belloy, M. E., Napolioni, V., Eger, S. J., Kennedy, G., Tao, R., He, Z., and Greicius, M. D.,
“A novel age-informed approach for genetic association analysis in Alzheimer's disease.”,
Alzheimers Res Ther, vol. 13, no. 1, p. 72, 2021.
Y. - J. Li, Oliveira, S. A., Xu, P., Martin, E. R., Stenger, J. E., Scherzer, C. R., Hauser, M. A., Scott, W. K., Small, G. W., Nance, M. A., Watts, R. L., Hubble, J. P., Koller, W. C., Pahwa, R., Stern, M. B., Hiner, B. C., Jankovic, J., Goetz, C. G., Mastaglia, F., Middleton, L. T., Roses, A. D., Saunders, A. M., Schmechel, D. E., Gullans, S. R., Haines, J. L., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Hulette, C., and Welsh-Bohmer, K. A.,
“Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.”,
Hum Mol Genet, vol. 12, no. 24, pp. 3259-67, 2003.
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