Syracuse

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease

Archive ouverte

Schott, Jonathan M. | Crutch, Sebastian J. | Carrasquillo, Minerva M. | Uphill, James | Shakespeare, Tim J. | Ryan, Natalie S. | Yong, Keir X.X. | Lehmann, Manja | Ertekin-Taner, Nilufer | Graff-Radford, Neil R. | Boeve, Bradley F. | Murray, Melissa E. | Khan, Qurat Ul Ain | Petersen, Ronald C. | Dickson, Dennis W. | Knopman, David S. | Rabinovici, Gil D. | Miller, Bruce L. | Gonzalez, Aida Suarez | Gil-Néciga, Eulogio | Snowden, Julie S. | Harris, Jenny | Pickering-Brown, Stuart M. | Louwersheimer, Eva | van Der Flier, Wiesje M. | Scheltens, Philip | Pijnenburg, Yolande A. | Galasko, Douglas | Sarazin, Marie | Dubois, Bruno | Magnin, Eloi | Galimberti, Daniela | Scarpini, Elio | Cappa, Stefano F. | Hodges, John R. | Halliday, Glenda M. | Bartley, Lauren | Carrillo, Maria C. | Bras, Jose T. | Hardy, John | Rossor, Martin N. | Collinge, John | Fox, Nick C. | Mead, Simon

Edité par CCSD ; Alzheimer's Association / Wiley -

International audience. Introduction: The genetics underlying posterior cortical atrophy (PCA), typically a rare variant of Alzheimer's disease (AD), remain uncertain. Methods: We genotyped 302 PCA patients from 11 centers, calculated risk at 24 loci for AD/DLB and performed an exploratory genome-wide association study. Results: We confirm that variation in/near APOE/TOMM40 (P 5 6 ! 10 214) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] 5 2.03, typical AD: OR 5 2.83, P 5 .0007). We found evidence for risk in/near CR1 (P 5 7 ! 10 24), ABCA7 (P 5 .02) and BIN1 (P 5 .04). ORs at variants near INPP5D and NME8 did not overlap between PCA and typical AD.

• Description
• Sujet/Public
• Outil
• Outil d'anticipation
• Mémoire et thèse
• Gestion