Article
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.
Annals of human genetics - 1 Mar 2013
Holton Patrick, Ryten Mina, Nalls Michael, Trabzuni Daniah, Weale Michael E, Hernandez Dena, Crehan Helen, Gibbs J Raphael, Mayeux Richard, Haines Jonathan L, Farrer Lindsay A, Pericak-Vance Margaret A, Schellenberg Gerard D, Ramirez-Restrepo Manuel, Engel Anzhelika, Myers Amanda J, Corneveaux Jason J, Huentelman Matthew J, Dillman Allissa, Cookson Mark R, Reiman Eric M, Singleton Andrew, Hardy John, Guerreiro Rita
Abstract excerpt
Recent genome wide association studies have identified CLU, CR1, ABCA7 BIN1, PICALM and MS4A6A/MS4A6E in addition to the long established APOE, as loci for Alzheimer's disease. We have systematically examined each of these loci to assess whether common coding variability contributes to the risk of disease. We have also assessed the regional expression of all the genes in the brain and whether there is evidence of...
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