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Genetic overlap between Alzheimer's Disease and Parkinson's Disease at the MAPT locus

Desikan, R S, Schork, A J, Wang, Y, Witoelar, A, Sharma, M, McEvoy, L K, Holland, D, Brewer, J B, Chen, C-H, Thompson, W K, Harold, Denise, Williams, Julie, Owen, Michael John, O'Donovan, Michael Conlon, Pericak-Vance, M A, Mayeux, R, Haines, J L, Farrer, L A, Schellenberg, G D, Heutink, P, Singleton, A B, Brice, A, Wood, N W, Hardy, J, Martinez, M, Choi, S H, DeStefano, A, Ikram, M A, Bis, J C, Smith, A, Fitzpatrick, A L, Launer, L, van Duijn, C, Seshadri, S, Ulstein, I D, Aarsland, D, Fladby, T, Djurovic, S, Hyman, B T, Snaedal, J, Stefansson, H, Stefansson, K, Gasser, T, Andreassen, O A and Dale, A M 2015. Genetic overlap between Alzheimer's Disease and Parkinson's Disease at the MAPT locus. Molecular Psychiatry 20 (12) , pp. 1588-1595. 10.1038/mp.2015.6

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We investigated the genetic overlap between Alzheimer’s disease (AD) and Parkinson’s disease (PD). Using summary statistics (P-values) from large recent genome-wide association studies (GWAS) (total n=89 904 individuals), we sought to identify single nucleotide polymorphisms (SNPs) associating with both AD and PD. We found and replicated association of both AD and PD with the A allele of rs393152 within the extended MAPT region on chromosome 17 (meta analysis P-value across five independent AD cohorts=1.65 × 10−7). In independent datasets, we found a dose-dependent effect of the A allele of rs393152 on intra-cerebral MAPT transcript levels and volume loss within the entorhinal cortex and hippocampus. Our findings identify the tau-associated MAPT locus as a site of genetic overlap between AD and PD, and extending prior work, we show that the MAPT region increases risk of Alzheimer’s neurodegeneration.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Nature Publishing Group
ISSN: 1359-4184
Date of Acceptance: 8 January 2015
Last Modified: 11 Jun 2019 10:37

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