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Candidate gene analysis for Alzheimer's disease in adults with Down syndrome
| Content Provider | Scilit |
|---|---|
| Author | Lee, Joseph H. Lee, Annie J. Dang, Lam-Ha Pang, Deborah Kisselev, Sergey Krinsky-McHale, Sharon J. Zigman, Warren B. Luchsinger, José A. Silverman, Wayne Tycko, Benjamin Clark, Lorraine N. Schupf, Nicole |
| Copyright Year | 2017 |
| Description | Journal: Neurobiology of Aging Individuals with Down syndrome (DS) overexpress many genes on chromosome 21 due to trisomy and have high risk of dementia due to the Alzheimer's disease (AD) neuropathology. However, there is a wide range of phenotypic differences (e.g., age at onset of AD, amyloid β levels) among adults with DS, suggesting the importance of factors that modify risk within this particularly vulnerable population, including genotypic variability. Previous genetic studies in the general population have identified multiple genes that are associated with AD. This study examined the contribution of polymorphisms in these genes to the risk of AD in adults with DS ranging from 30 to 78 years of age at study entry (N = 320). We used multiple logistic regressions to estimate the likelihood of AD using single-nucleotide polymorphisms (SNPs) in candidate genes, adjusting for age, sex, race/ethnicity, level of intellectual disability and APOE genotype. This study identified multiple SNPs in APP and CST3 that were associated with AD at a gene-wise level empirical p-value of 0.05, with odds ratios in the range of 1.5–2. SNPs in MARK4 were marginally associated with AD. CST3 and MARK4 may contribute to our understanding of potential mechanisms where CST3 may contribute to the amyloid pathway by inhibiting plaque formation, and MARK4 may contribute to the regulation of the transition between stable and dynamic microtubules. |
| Related Links | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603247/pdf |
| Ending Page | 158 |
| Page Count | 9 |
| Starting Page | 150 |
| ISSN | 01974580 |
| DOI | 10.1016/j.neurobiolaging.2017.04.018 |
| Journal | Neurobiology of Aging |
| Volume Number | 56 |
| Language | English |
| Publisher | Elsevier BV |
| Publisher Date | 2017-05-03 |
| Access Restriction | Open |
| Subject Keyword | Journal: Neurobiology of Aging Down Syndrome Alzheimer Disease Gene Mapping Candidate Genes |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neuroscience Developmental Biology Aging Neurology (clinical) Geriatrics and Gerontology |
