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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.

Original publication

DOI

10.1038/s41588-021-00785-3

Type

Journal article

Journal

Nature genetics

Publication Date

03/2021

Volume

53

Pages

294 - 303

Addresses

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Keywords

American Genome Center, Humans, Lewy Body Disease, Parkinson Disease, Alzheimer Disease, Genetic Predisposition to Disease, Glucosylceramidase, Adaptor Proteins, Signal Transducing, Tumor Suppressor Proteins, Nuclear Proteins, Case-Control Studies, Gene Expression Profiling, Polymorphism, Single Nucleotide, Genome, Human, alpha-Synuclein, Genome-Wide Association Study