CDK5RAP2 gene and tau pathophysiology in late-onset sporadic Alzheimer's disease.
|Title||CDK5RAP2 gene and tau pathophysiology in late-onset sporadic Alzheimer's disease.|
|Publication Type||Journal Article|
|Year of Publication||2018|
|Authors||Miron J, Picard C, Nilsson N, Frappier J, Dea D, Théroux L, Poirier J|
|Corporate Authors||Alzheimer's Disease Neuroimaging Initiative, United Kingdom Brain Expression Consortium|
|Date Published||2018 Jan 19|
INTRODUCTION: Because currently known Alzheimer's disease (AD) single-nucleotide polymorphisms only account for a small fraction of the genetic variance in this disease, there is a need to identify new variants associated with AD.METHODS: Our team performed a genome-wide association study in the Quebec Founder Population isolate to identify novel protective or risk genetic factors for late-onset sporadic AD and examined the impact of these variants on gene expression and AD pathology.RESULTS: The rs10984186 variant is associated with an increased risk of developing AD and with a higher CDK5RAP2 mRNA prevalence in the hippocampus. On the other hand, the rs4837766 variant, which is among the best cis-expression quantitative trait loci in the CDK5RAP2 gene, is associated with lower mild cognitive impairment/AD risk and conversion rate.DISCUSSION: The rs10984186 risk and rs4837766 protective polymorphic variants of the CDK5RAP2 gene might act as potent genetic modifiers for AD risk and/or conversion by modulating the expression of this gene.
|Alternate Journal||Alzheimers Dement|