Article
ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease.
Molecular neurodegeneration - 10 Mar 2014
Medway Christopher W, Abdul-Hay Samer, Mims Tynickwa, Ma Li, Bisceglio Gina, Zou Fanggeng, Pankratz Shane, Sando Sigrid B, Aasly Jan O, Barcikowska Maria, Siuda Joanna, Wszolek Zbigniew K, Ross Owen A, Carrasquillo Minerva, Dickson Dennis W, Graff-Radford Neill, Petersen Ronald C, Ertekin-Taner Nilüfer, Morgan Kevin, Bu Guojun, Younkin Steven G
Abstract excerpt
Recent genome-wide association studies (GWAS) of late-onset Alzheimer's disease (LOAD) have identified single nucleotide polymorphisms (SNPs) which show significant association at the well-known APOE locus and at nineteen additional loci. Among the functional, disease-associated variants at these loci, missense variants are particularly important because they can be readily investigated in model systems to search...
Topics
- Age of Onset
- Aged
- Alzheimer Disease
- Apolipoproteins E
- Case-Control Studies
- Female
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Genotype
