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 |
| Journal | Alzheimers Dement |
| Date Published | 2018 Jan 19 |
| ISSN | 1552-5279 |
| Abstract | 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. |
| DOI | 10.1016/j.jalz.2017.12.004 |
| Alternate Journal | Alzheimers Dement |
| PubMed ID | 29360470 |
