The effects of two polymorphisms on p21cip1 function and their association with Alzheimer's disease in a population of European descent.

ABSTRACT: With the exception of ApoE4, genome-wide association studies have failed to identify strong genetic risk factors for late-onset Alzheimer's disease, despite strong evidence of heritability, suggesting that many low penetrance genes may be involved. Additionally, the nature of the identified genetic risk factors and their relation to disease pathology is also largely obscure. Previous studies have found that a cancer-associated variant of the cell cycle inhibitor gene p21cip1 is associated with increased risk of Alzheimer's disease. The aim of this study was to confirm this association and to elucidate the effects of the variant on protein function and Alzheimer-type pathology. We examined the association of the p21cip1 variant with Alzheimer's disease and Parkinson's disease with dementia.

SUBMITTER: Yates SC 

PROVIDER: S-EPMC4308198 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature