A comprehensive analysis of copy number variation in a Turkish dementia cohort.

ABSTRACT:

Background

Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and triplications of SNCA have been shown to cause forms of Parkinson's disease, while duplications of APP cause early onset Alzheimer's disease (AD).

Results

Here, we performed a systematic analysis of CNVs in a Turkish dementia cohort in order to further characterize the genetic causes of dementia in this population. One hundred twenty-four Turkish individuals, either at risk of dementia due to family history, diagnosed with mild cognitive impairment, AD, or frontotemporal dementia, were whole-genome genotyped and CNVs were detected. We integrated family analysis

SUBMITTER: Dehghani N 

PROVIDER: S-EPMC8317312 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature