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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S et al.. Nature genetics, 2021-02-15
Topic: Brain proteins, microglia and lab models
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.
Key findings
- 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.
Why it matters
Whole-genome sequencing in large cohorts identified five risk loci for Lewy body dementia and implicated mutations in the gene GBA, and genetic risk scores showed shared risk with Alzheimer's and Parkinson's diseases. This improves understanding of the genetic architecture of Lewy body dementia but reports no treatment or cure.
Study details
- Evidence strengthLow
How this study scored 64/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Nature genetics) |
| Journal's citation record | 4 / 4 | Nature Genetics: journal h-index 776 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 3 / 5 | 2021 — within 6 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 441 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 63.0 citations a year over 7 year(s) since 2021 |
| Impact for its field and year | 5 / 6 | Cited 31.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 19 other studies in this library |
| Still being cited | 4 / 4 | Cited 274 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Bernardino Francesco Ghetti: h-index 121 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 70 institution(s) in 14 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 33589841) |
| Free to read | 2 / 2 | Free to read |
| Total | 64 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1038/s41588-021-00785-3
- PubMed: 33589841
- Original source →
- Free full text: Pure Amsterdam UMC →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., et al. (2021). Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature genetics. https://doi.org/10.1038/s41588-021-00785-3
Vancouver
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, et al. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature genetics. 2021. doi:10.1038/s41588-021-00785-3. PMID: 33589841.
BibTeX
@article{chia2021-33589841,
author = {Chia, R. and Sabir, M. S. and Bandres-Ciga, S. and Saez-Atienzar, S. and Reynolds, R. H. and Gustavsson, E. and Walton, R. L. and Ahmed, S. and others},
title = {{Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture}},
journal = {Nature genetics},
year = {2021},
doi = {10.1038/s41588-021-00785-3},
pmid = {33589841},
url = {https://doi.org/10.1038/s41588-021-00785-3}
}
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