AI Article Synopsis
- The study examined the impact of structural variants—genetic changes not commonly studied—on Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS).
- Researchers used a specialized analysis tool on genetic data from over 9,000 individuals to identify new and known genetic risk factors for these dementias.
- A catalog of these structural variants was created, offering a resource for deeper understanding of the underlying mechanisms of LBD and FTD/ALS.
Article Abstract
We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in as a novel risk locus for LBD and detected the known structural variants at the and loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300553 | PMC |
| http://dx.doi.org/10.1016/j.xgen.2023.100316 | DOI Listing |
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