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Genetic overlap between Alzheimer’s disease and Parkinson’s disease at the MAPT locus
- Desikan, RS;
- Schork, AJ;
- Wang, Y;
- Witoelar, A;
- Sharma, M;
- McEvoy, LK;
- Holland, D;
- Brewer, JB;
- Chen, C-H;
- Thompson, WK;
- Harold, D;
- Williams, J;
- Owen, MJ;
- O'Donovan, MC;
- Pericak-Vance, MA;
- Mayeux, R;
- Haines, JL;
- Farrer, LA;
- Schellenberg, GD;
- Heutink, P;
- Singleton, AB;
- Brice, A;
- Wood, NW;
- Hardy, J;
- Martinez, M;
- Choi, SH;
- DeStefano, A;
- Ikram, MA;
- Bis, JC;
- Smith, A;
- Fitzpatrick, AL;
- Launer, L;
- van Duijn, C;
- Seshadri, S;
- Ulstein, ID;
- Aarsland, D;
- Fladby, T;
- Djurovic, S;
- Hyman, BT;
- Snaedal, J;
- Stefansson, H;
- Stefansson, K;
- Gasser, T;
- Andreassen, OA;
- Dale, AM
- et al.
Published Web Location
https://doi.org/10.1038/mp.2015.6Abstract
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.
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