Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

The American Genome Center

Research output: Contribution to journalArticleAcademicpeer-review


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 languageEnglish
Pages (from-to)294-303
Number of pages10
JournalNature Genetics
Issue number3
Publication statusPublished - 1 Mar 2021

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