Journal article
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
- Abstract:
- The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s disease and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Preview, Accepted manuscript, 7.4MB, Terms of use)
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- Publisher copy:
- 10.1038/s41588-021-00785-3
Authors
- Publisher:
- Springer Nature
- Journal:
- Nature Genetics More from this journal
- Volume:
- 53
- Issue:
- 3
- Pages:
- 294-303
- Publication date:
- 2021-02-15
- Acceptance date:
- 2021-01-12
- DOI:
- EISSN:
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1546-1718
- ISSN:
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1061-4036
- Pmid:
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33589841
- Language:
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English
- Keywords:
- Pubs id:
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1162087
- Local pid:
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pubs:1162087
- Deposit date:
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2021-06-17
Terms of use
- Copyright holder:
- Chia et al.
- Copyright date:
- 2021
- Rights statement:
- Copyright © 2021. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.
- Notes:
- This is the accepted manuscript version of the article. The final version is available online from Springer Nature at: https://doi.org/10.1038/s41588-021-00785-3
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