Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
Nature genetics, 2021•nature.com
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 …
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 …
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.
nature.com
