Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. Escott-Price, V., Bellenguez, C., Wang, L., Choi, S., Harold, D., Jones, L., Holmans, P., Gerrish, A., Vedernikov, A., Richards, A., DeStefano, A. L., Lambert, J., Ibrahim-Verbaas, C. A., Naj, A. C., Sims, R., Jun, G., Bis, J. C., Beecham, G. W., Grenier-Boley, B., Russo, G., Thornton-Wells, T. A., Denning, N., Smith, A. V., Chouraki, V., Thomas, C., Ikram, M. A., Zelenika, D., Vardarajan, B. N., Kamatani, Y., Lin, C., Schmidt, H., Kunkle, B., Dunstan, M. L., Vronskaya, M., United Kingdom Brain Expression Consortium, Johnson, A. D., Ruiz, A., Bihoreau, M., Reitz, C., Pasquier, F., Hollingworth, P., Hanon, O., Fitzpatrick, A. L., Buxbaum, J. D., Campion, D., Crane, P. K., Baldwin, C., Becker, T., Gudnason, V., Cruchaga, C., Craig, D., Amin, N., Berr, C., Lopez, O. L., De Jager, P. L., Deramecourt, V., Johnston, J. A., Evans, D., Lovestone, S., Letenneur, L., Hernández, I., Rubinsztein, D. C., Eiriksdottir, G., Sleegers, K., Goate, A. M., Fiévet, N., Huentelman, M. J., Gill, M., Brown, K., Kamboh, M. I., Keller, L., Barberger-Gateau, P., McGuinness, B., Larson, E. B., Myers, A. J., Dufouil, C., Todd, S., Wallon, D., Love, S., Rogaeva, E., Gallacher, J., George-Hyslop, P. S., Clarimon, J., Lleo, A., Bayer, A., Tsuang, D. W., Yu, L., Tsolaki, M., Bossù, P., Spalletta, G., Proitsi, P., Collinge, J., Sorbi, S., Garcia, F. S., Fox, N. C., Hardy, J., Naranjo, M. C. D., Bosco, P., Clarke, R., Brayne, C., Galimberti, D., Scarpini, E., Bonuccelli, U., Mancuso, M., Siciliano, G., Moebus, S., Mecocci, P., Zompo, M. D., Maier, W., Hampel, H., Pilotto, A., Frank-García, A., Panza, F., Solfrizzi, V., Caffarra, P., Nacmias, B., Perry, W., Mayhaus, M., Lannfelt, L., Hakonarson, H., Pichler, S., Carrasquillo, M. M., Ingelsson, M., Beekly, D., Alvarez, V., Zou, F., Valladares, O., Younkin, S. G., Coto, E., Hamilton-Nelson, K. L., Gu, W., Razquin, C., Pastor, P., Mateo, I., Owen, M. J., Faber, K. M., Jonsson, P. V., Combarros, O., O'Donovan, M. C., Cantwell, L. B., Soininen, H., Blacker, D., Mead, S., Mosley, T. H., Bennett, D. A., Harris, T. B., Fratiglioni, L., Holmes, C., de Bruijn, R. F. A. G., Passmore, P., Montine, T. J., Bettens, K., Rotter, J. I., Brice, A., Morgan, K., Foroud, T. M., Kukull, W. A., Hannequin, D., Powell, J. F., Nalls, M. A., Ritchie, K., Lunetta, K. L., Kauwe, J. S. K., Boerwinkle, E., Riemenschneider, M., Boada, M., Hiltunen, M., Martin, E. R., Schmidt, R., Rujescu, D., Dartigues, J., Mayeux, R., Tzourio, C., Hofman, A., Nöthen, M. M., Graff, C., Psaty, B. M., Haines, J. L., Lathrop, M., Pericak-Vance, M. A., Launer, L. J., Van Broeckhoven, C., Farrer, L. A., van Duijn, C. M., Ramirez, A., Seshadri, S., Schellenberg, G. D., Amouyel, P., Williams, J., & Cardiovascular Health Study (CHS) PloS One, 9(6):e94661, 2014.
doi  abstract   bibtex   
BACKGROUND: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. PRINCIPAL FINDINGS: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10-6) and 14 (IGHV1-67 p = 7.9×10-8) which indexed novel susceptibility loci. SIGNIFICANCE: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
@article{escott-price_gene-wide_2014,
	title = {Gene-wide analysis detects two new susceptibility genes for {Alzheimer}'s disease},
	volume = {9},
	issn = {1932-6203},
	doi = {10.1371/journal.pone.0094661},
	abstract = {BACKGROUND: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls.
PRINCIPAL FINDINGS: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10-6) and 14 (IGHV1-67 p = 7.9×10-8) which indexed novel susceptibility loci.
SIGNIFICANCE: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.},
	language = {eng},
	number = {6},
	journal = {PloS One},
	author = {Escott-Price, Valentina and Bellenguez, Céline and Wang, Li-San and Choi, Seung-Hoan and Harold, Denise and Jones, Lesley and Holmans, Peter and Gerrish, Amy and Vedernikov, Alexey and Richards, Alexander and DeStefano, Anita L. and Lambert, Jean-Charles and Ibrahim-Verbaas, Carla A. and Naj, Adam C. and Sims, Rebecca and Jun, Gyungah and Bis, Joshua C. and Beecham, Gary W. and Grenier-Boley, Benjamin and Russo, Giancarlo and Thornton-Wells, Tricia A. and Denning, Nicola and Smith, Albert V. and Chouraki, Vincent and Thomas, Charlene and Ikram, M. Arfan and Zelenika, Diana and Vardarajan, Badri N. and Kamatani, Yoichiro and Lin, Chiao-Feng and Schmidt, Helena and Kunkle, Brian and Dunstan, Melanie L. and Vronskaya, Maria and {United Kingdom Brain Expression Consortium} and Johnson, Andrew D. and Ruiz, Agustin and Bihoreau, Marie-Thérèse and Reitz, Christiane and Pasquier, Florence and Hollingworth, Paul and Hanon, Olivier and Fitzpatrick, Annette L. and Buxbaum, Joseph D. and Campion, Dominique and Crane, Paul K. and Baldwin, Clinton and Becker, Tim and Gudnason, Vilmundur and Cruchaga, Carlos and Craig, David and Amin, Najaf and Berr, Claudine and Lopez, Oscar L. and De Jager, Philip L. and Deramecourt, Vincent and Johnston, Janet A. and Evans, Denis and Lovestone, Simon and Letenneur, Luc and Hernández, Isabel and Rubinsztein, David C. and Eiriksdottir, Gudny and Sleegers, Kristel and Goate, Alison M. and Fiévet, Nathalie and Huentelman, Matthew J. and Gill, Michael and Brown, Kristelle and Kamboh, M. Ilyas and Keller, Lina and Barberger-Gateau, Pascale and McGuinness, Bernadette and Larson, Eric B. and Myers, Amanda J. and Dufouil, Carole and Todd, Stephen and Wallon, David and Love, Seth and Rogaeva, Ekaterina and Gallacher, John and George-Hyslop, Peter St and Clarimon, Jordi and Lleo, Alberto and Bayer, Anthony and Tsuang, Debby W. and Yu, Lei and Tsolaki, Magda and Bossù, Paola and Spalletta, Gianfranco and Proitsi, Petra and Collinge, John and Sorbi, Sandro and Garcia, Florentino Sanchez and Fox, Nick C. and Hardy, John and Naranjo, Maria Candida Deniz and Bosco, Paolo and Clarke, Robert and Brayne, Carol and Galimberti, Daniela and Scarpini, Elio and Bonuccelli, Ubaldo and Mancuso, Michelangelo and Siciliano, Gabriele and Moebus, Susanne and Mecocci, Patrizia and Zompo, Maria Del and Maier, Wolfgang and Hampel, Harald and Pilotto, Alberto and Frank-García, Ana and Panza, Francesco and Solfrizzi, Vincenzo and Caffarra, Paolo and Nacmias, Benedetta and Perry, William and Mayhaus, Manuel and Lannfelt, Lars and Hakonarson, Hakon and Pichler, Sabrina and Carrasquillo, Minerva M. and Ingelsson, Martin and Beekly, Duane and Alvarez, Victoria and Zou, Fanggeng and Valladares, Otto and Younkin, Steven G. and Coto, Eliecer and Hamilton-Nelson, Kara L. and Gu, Wei and Razquin, Cristina and Pastor, Pau and Mateo, Ignacio and Owen, Michael J. and Faber, Kelley M. and Jonsson, Palmi V. and Combarros, Onofre and O'Donovan, Michael C. and Cantwell, Laura B. and Soininen, Hilkka and Blacker, Deborah and Mead, Simon and Mosley, Thomas H. and Bennett, David A. and Harris, Tamara B. and Fratiglioni, Laura and Holmes, Clive and de Bruijn, Renee F. A. G. and Passmore, Peter and Montine, Thomas J. and Bettens, Karolien and Rotter, Jerome I. and Brice, Alexis and Morgan, Kevin and Foroud, Tatiana M. and Kukull, Walter A. and Hannequin, Didier and Powell, John F. and Nalls, Michael A. and Ritchie, Karen and Lunetta, Kathryn L. and Kauwe, John S. K. and Boerwinkle, Eric and Riemenschneider, Matthias and Boada, Mercè and Hiltunen, Mikko and Martin, Eden R. and Schmidt, Reinhold and Rujescu, Dan and Dartigues, Jean-François and Mayeux, Richard and Tzourio, Christophe and Hofman, Albert and Nöthen, Markus M. and Graff, Caroline and Psaty, Bruce M. and Haines, Jonathan L. and Lathrop, Mark and Pericak-Vance, Margaret A. and Launer, Lenore J. and Van Broeckhoven, Christine and Farrer, Lindsay A. and van Duijn, Cornelia M. and Ramirez, Alfredo and Seshadri, Sudha and Schellenberg, Gerard D. and Amouyel, Philippe and Williams, Julie and {Cardiovascular Health Study (CHS)}},
	year = {2014},
	pmid = {24922517},
	pmcid = {PMC4055488},
	keywords = {Alzheimer Disease, Humans, Case-Control Studies, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Carrier Proteins, Heat-Shock Proteins, Receptors, Antigen, B-Cell},
	pages = {e94661}
}
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