Copy number variation of whole genome sequence in 1519 patients with Alzheimer’s disease in China
Lu Shen, Qijie Yang, Xuewen Xiao, Tianyan Xu, Yuan Zhu, Bin Jiao · 2025
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Description
Genetic studies of Alzheimer's disease have mostly hunted single-letter DNA changes, leaving part of the inherited risk unexplained. Shen and five co-authors look instead at copy number variants, stretches of DNA deleted or duplicated. They sequenced the full genomes of 1,519 Chinese patients and 2,010 controls at high depth. Six detection tools were combined to build a trustworthy variant set.
The search found about sixty-seven thousand deletions and eleven thousand duplications. Rare variants sat in known dementia genes: a duplicated APP gene in one early-onset patient, and changes in several other genes needing further checks. Two deletions tracked almost perfectly with nearby single-letter variants, which may help interpret them. The authors note that APP duplication, a known cause elsewhere, looks rare in China. They say structural variants deserve a place in the disease's genetic map.
Catalog record
| CREATOR | Lu Shen, Qijie Yang, Xuewen Xiao, Tianyan Xu, Yuan Zhu, Bin Jiao |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 2 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |