Ontology highlight
ABSTRACT:
SUBMITTER: Holton P
PROVIDER: S-EPMC3578142 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Holton Patrick P Ryten Mina M Nalls Michael M Trabzuni Daniah D Weale Michael E ME Hernandez Dena D Crehan Helen H Gibbs J Raphael JR Mayeux Richard R Haines Jonathan L JL Farrer Lindsay A LA Pericak-Vance Margaret A MA Schellenberg Gerard D GD Ramirez-Restrepo Manuel M Engel Anzhelika A Myers Amanda J AJ Corneveaux Jason J JJ Huentelman Matthew J MJ Dillman Allissa A Cookson Mark R MR Reiman Eric M EM Singleton Andrew A Hardy John J Guerreiro Rita R
Annals of human genetics 20130130 2
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 an eQTL explaining the risk. In agreement with other studies we find that coding va ...[more]