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Genetic Predisposition to Disease

B. W. Kunkle, Jaworski, J., Barral, S., Vardarajan, B., Beecham, G. W., Martin, E. R., Cantwell, L. S., Partch, A., Bird, T. D., Raskind, W. H., DeStefano, A. L., Carney, R. M., Cuccaro, M., Vance, J. M., Farrer, L. A., Goate, A. M., Foroud, T., Mayeux, R. P., Schellenberg, G. D., Haines, J. L., and Pericak-Vance, M. A., “Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.”, Alzheimers Dement, vol. 12, no. 1, pp. 2-10, 2016.

G. W. Beecham, Martin, E. R., Li, Y. - J., Slifer, M. A., Gilbert, J. R., Haines, J. L., and Pericak-Vance, M. A., “Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.”, Am J Hum Genet, vol. 84, no. 1, pp. 35-43, 2009.

D. Harold, Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. Singh, Moskvina, V., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Holmes, C., Mann, D., A Smith, D., Love, S., Kehoe, P. G., Hardy, J., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Schürmann, B., Heun, R., van den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Hüll, M., Rujescu, D., 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., Carrasquillo, M. M., V Pankratz, S., Younkin, S. G., Holmans, P. A., O'Donovan, M., Owen, M. J., and Williams, J., “Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.”, Nat Genet, vol. 41, no. 10, pp. 1088-93, 2009.

E. M. Reiman, Webster, J. A., Myers, A. J., Hardy, J., Dunckley, T., Zismann, V. L., Joshipura, K. D., Pearson, J. V., Hu-Lince, D., Huentelman, M. J., Craig, D. W., Coon, K. D., Liang, W. S., Herbert, R. L. H., Beach, T., Rohrer, K. C., Zhao, A. S., Leung, D., Bryden, L., Marlowe, L., Kaleem, M., Mastroeni, D., Grover, A., Heward, C. B., Ravid, R., Rogers, J., Hutton, M. L., Melquist, S., Petersen, R. C., Alexander, G. E., Caselli, R. J., Kukull, W., Papassotiropoulos, A., and Stephan, D. A., “GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.”, Neuron, vol. 54, no. 5, pp. 713-20, 2007.

G. W. Beecham, Hamilton, K., Naj, A. C., Martin, E. R., Huentelman, M., Myers, A. J., Corneveaux, J. J., Hardy, J., Vonsattel, J. - P., Younkin, S. G., Bennett, D. A., De Jager, P. L., Larson, E. B., Crane, P. K., M Kamboh, I., Kofler, J. K., Mash, D. C., Duque, L., Gilbert, J. R., Gwirtsman, H., Buxbaum, J. D., Kramer, P., Dickson, D. W., Farrer, L. A., Frosch, M. P., Ghetti, B., Haines, J. L., Hyman, B. T., Kukull, W. A., Mayeux, R. P., Pericak-Vance, M. A., Schneider, J. A., Trojanowski, J. Q., Reiman, E. M., Schellenberg, G. D., and Montine, T. J., “Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.”, PLoS Genet, vol. 10, no. 9, p. e1004606, 2014.

A. Patel, Rees, S. D., M Kelly, A., Bain, S. C., Barnett, A. H., Prasher, A., Arshad, H., and Prasher, V. P., “Genetic variants conferring susceptibility to Alzheimer's disease in the general population; do they also predispose to dementia in Down's syndrome.”, BMC Res Notes, vol. 7, p. 42, 2014.

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.

Y. Deming, Li, Z., Kapoor, M., Harari, O., Del-Aguila, J. L., Black, K., Carrell, D., Cai, Y., Fernández, M. Victoria, Budde, J., Ma, S., Saef, B., Howells, B., Huang, K. - L., Bertelsen, S., Fagan, A. M., Holtzman, D. M., Morris, J. C., Kim, S., Saykin, A. J., De Jager, P. L., Albert, M., Moghekar, A., O'Brien, R., Riemenschneider, M., Petersen, R. C., Blennow, K., Zetterberg, H., Minthon, L., Van Deerlin, V. M., Lee, V. Man- Yee, Shaw, L. M., Trojanowski, J. Q., Schellenberg, G., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Peskind, E. R., Li, G., Di Narzo, A. F., Kauwe, J. S. K., Goate, A. M., and Cruchaga, C., “Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.”, Acta Neuropathol, vol. 133, no. 5, pp. 839-856, 2017.

Genetic Testing

C. Reitz, “Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.”, Expert Rev Mol Diagn, vol. 15, no. 3, pp. 339-48, 2015.

Genetic Variation

R. K. Gopalraj, Zhu, H., Kelly, J. F., Mendiondo, M., Pulliam, J. F., Bennett, D. A., and Estus, S., “Genetic association of low density lipoprotein receptor and Alzheimer's disease.”, Neurobiol Aging, vol. 26, no. 1, pp. 1-7, 2005.

M. M. Carrasquillo, Zou, F., V Pankratz, S., Wilcox, S. L., Ma, L., Walker, L. P., Younkin, S. G., Younkin, C. S., Younkin, L. H., Bisceglio, G. D., Ertekin-Taner, N., Crook, J. E., Dickson, D. W., Petersen, R. C., Graff-Radford, N. R., and Younkin, S. G., “Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.”, Nat Genet, vol. 41, no. 2, pp. 192-8, 2009.

C. L. Satizabal, Adams, H. H. H., Hibar, D. P., White, C. C., Knol, M. J., Stein, J. L., Scholz, M., Sargurupremraj, M., Jahanshad, N., Roshchupkin, G. V., Smith, A. V., Bis, J. C., Jian, X., Luciano, M., Hofer, E., Teumer, A., van der Lee, S. J., Yang, J., Yanek, L. R., Lee, T. V., Li, S., Hu, Y., Koh, J. Yu, Eicher, J. D., Desrivières, S., Arias-Vasquez, A., Chauhan, G., Athanasiu, L., Rentería, M. E., Kim, S., Hoehn, D., Armstrong, N. J., Chen, Q., Holmes, A. J., Braber, Aden, Kloszewska, I., Andersson, M., Espeseth, T., Grimm, O., Abramovic, L., Alhusaini, S., Milaneschi, Y., Papmeyer, M., Axelsson, T., Ehrlich, S., Roiz-Santiañez, R., Kraemer, B., Håberg, A. K., Jones, H. J., G Pike, B., Stein, D. J., Stevens, A., Bralten, J., Vernooij, M. W., Harris, T. B., Filippi, I., A Witte, V., Guadalupe, T., Wittfeld, K., Mosley, T. H., Becker, J. T., Doan, N. Trung, Hagenaars, S. P., Saba, Y., Cuellar-Partida, G., Amin, N., Hilal, S., Nho, K., Mirza-Schreiber, N., Arfanakis, K., Becker, D. M., Ames, D., Goldman, A. L., Lee, P. H., Boomsma, D. I., Lovestone, S., Giddaluru, S., Le Hellard, S., Mattheisen, M., Bohlken, M. M., Kasperaviciute, D., Schmaal, L., Lawrie, S. M., Agartz, I., Walton, E., Tordesillas-Gutierrez, D., Davies, G. E., Shin, J., Ipser, J. C., Vinke, L. N., Hoogman, M., Jia, T., Burkhardt, R., Klein, M., Crivello, F., Janowitz, D., Carmichael, O., Haukvik, U. K., Aribisala, B. S., Schmidt, H., Strike, L. T., Cheng, C. - Y., Risacher, S. L., Pütz, B., Fleischman, D. A., Assareh, A. A., Mattay, V. S., Buckner, R. L., Mecocci, P., Dale, A. M., Cichon, S., Boks, M. P., Matarin, M., Penninx, B. W. J. H., Calhoun, V. D., M Chakravarty, M., Marquand, A. F., Macare, C., Masouleh, S. Kharabian, Oosterlaan, J., Amouyel, P., Hegenscheid, K., Rotter, J. I., Schork, A. J., Liewald, D. C. M., de Zubicaray, G. I., Wong, T. Yin, Shen, L., Sämann, P. G., Brodaty, H., Roffman, J. L., de Geus, E. J. C., Tsolaki, M., Erk, S., van Eijk, K. R., Cavalleri, G. L., van der Wee, N. J. A., McIntosh, A. M., Gollub, R. L., Bulayeva, K. B., Bernard, M., Richards, J. S., Himali, J. J., Loeffler, M., Rommelse, N., Hoffmann, W., Westlye, L. T., Hernández, M. C. Valdés, Hansell, N. K., van Erp, T. G. M., Wolf, C., Kwok, J. B. J., Vellas, B., Heinz, A., Loohuis, L. M. Olde, Delanty, N., Ho, B. - C., Ching, C. R. K., Shumskaya, E., Singh, B., Hofman, A., van der Meer, D., Homuth, G., Psaty, B. M., Bastin, M. E., Montgomery, G. W., Foroud, T. M., Reppermund, S., Hottenga, J. - J., Simmons, A., Meyer-Lindenberg, A., Cahn, W., Whelan, C. D., van Donkelaar, M. M. J., Yang, Q., Hosten, N., Green, R. C., Thalamuthu, A., Mohnke, S., Pol, H. E. Hulshoff, Lin, H., Jack, C. R., Schofield, P. R., Mühleisen, T. W., Maillard, P., Potkin, S. G., Wen, W., Fletcher, E., Toga, A. W., Gruber, O., Huentelman, M., Smith, G. Davey, Launer, L. J., Nyberg, L., Jönsson, E. G., Crespo-Facorro, B., Koen, N., Greve, D. N., Uitterlinden, A. G., Weinberger, D. R., Steen, V. M., Fedko, I. O., Groenewold, N. A., Niessen, W. J., Toro, R., Tzourio, C., Longstreth, W. T., M Ikram, K., Smoller, J. W., van Tol, M. - J., Sussmann, J. E., Paus, T., Lemaître, H., Schroeter, M. L., Mazoyer, B., Andreassen, O. A., Holsboer, F., Depondt, C., Veltman, D. J., Turner, J. A., Pausova, Z., Schumann, G., van Rooij, D., Djurovic, S., Deary, I. J., McMahon, K. L., Müller-Myhsok, B., Brouwer, R. M., Soininen, H., Pandolfo, M., Wassink, T. H., Cheung, J. W., Wolfers, T., Martinot, J. - L., Zwiers, M. P., Nauck, M., Melle, I., Martin, N. G., Kanai, R., Westman, E., Kahn, R. S., Sisodiya, S. M., White, T., Saremi, A., van Bokhoven, H., Brunner, H. G., Völzke, H., Wright, M. J., Ent, Dvan 't, Nöthen, M. M., Ophoff, R. A., Buitelaar, J. K., Fernández, G., Sachdev, P. S., Rietschel, M., van Haren, N. E. M., Fisher, S. E., Beiser, A. S., Francks, C., Saykin, A. J., Mather, K. A., Romanczuk-Seiferth, N., Hartman, C. A., DeStefano, A. L., Heslenfeld, D. J., Weiner, M. W., Walter, H., Hoekstra, P. J., Nyquist, P. A., Franke, B., Bennett, D. A., Grabe, H. J., Johnson, A. D., Chen, C., van Duijn, C. M., Lopez, O. L., Fornage, M., Wardlaw, J. M., Schmidt, R., DeCarli, C., De Jager, P. L., Villringer, A., Debette, S., Gudnason, V., Medland, S. E., Shulman, J. M., Thompson, P. M., Seshadri, S., and M Ikram, A., “Genetic architecture of subcortical brain structures in 38,851 individuals.”, Nat Genet, vol. 51, no. 11, pp. 1624-1636, 2019.

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.

E. E. Blue, Bis, J. C., Dorschner, M. O., Tsuang, D. W., Barral, S. M., Beecham, G., Below, J. E., Bush, W. S., Butkiewicz, M., Cruchaga, C., DeStefano, A., Farrer, L. A., Goate, A., Haines, J., Jaworski, J., Jun, G., Kunkle, B., Kuzma, A., Lee, J. J., Lunetta, K. L., Ma, Y., Martin, E., Naj, A., Nato, A. Q., Navas, P., Nguyen, H., Reitz, C., Reyes, D., Salerno, W., Schellenberg, G. D., Seshadri, S., Sohi, H., Thornton, T. A., Valadares, O., van Duijn, C., Vardarajan, B. N., San Wang, L. -, Boerwinkle, E., Dupuis, J., Pericak-Vance, M. A., Mayeux, R., and Wijsman, E. M., “Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.”, Dement Geriatr Cogn Disord, vol. 45, no. 1-2, pp. 1-17, 2018.

P. L. De Jager, Shulman, J. M., Chibnik, L. B., Keenan, B. T., Raj, T., Wilson, R. S., Yu, L., Leurgans, S. E., Tran, D., Aubin, C., Anderson, C. D., Biffi, A., Corneveaux, J. J., Huentelman, M. J., Rosand, J., Daly, M. J., Myers, A. J., Reiman, E. M., Bennett, D. A., and Evans, D. A., “A genome-wide scan for common variants affecting the rate of age-related cognitive decline.”, Neurobiol Aging, vol. 33, no. 5, pp. 1017.e1-15, 2012.

Genome, Human

Genome-Wide Association Study

C. Reitz, “Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.”, Expert Rev Mol Diagn, vol. 15, no. 3, pp. 339-48, 2015.

C. Cruchaga, Kauwe, J. S. K., Harari, O., Jin, S. Chih, Cai, Y., Karch, C. M., Benitez, B. A., Jeng, A. T., Skorupa, T., Carrell, D., Bertelsen, S., Bailey, M., McKean, D., Shulman, J. M., De Jager, P. L., Chibnik, L., Bennett, D. A., Arnold, S. E., Harold, D., Sims, R., Gerrish, A., Williams, J., Van Deerlin, V. M., Lee, V. M. - Y., Shaw, L. M., Trojanowski, J. Q., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Schellenberg, G. D., Peskind, E. R., Galasko, D., Fagan, A. M., Holtzman, D. M., Morris, J. C., and Goate, A. M., “GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.”, Neuron, vol. 78, no. 2, pp. 256-68, 2013.

J. A. Webster, J Gibbs, R., Clarke, J., Ray, M., Zhang, W., Holmans, P., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., McCorquodale, D. S., Cuello, C., Leung, D., Bryden, L., Nath, P., Zismann, V. L., Joshipura, K., Huentelman, M. J., Hu-Lince, D., Coon, K. D., Craig, D. W., Pearson, J. V., Heward, C. B., Reiman, E. M., Stephan, D., Hardy, J., and Myers, A. J., “Genetic control of human brain transcript expression in Alzheimer disease.”, Am J Hum Genet, vol. 84, no. 4, pp. 445-58, 2009.