期刊
NATURE GENETICS
卷 53, 期 3, 页码 294-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41588-021-00785-3
关键词
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资金
- Intramural Research Program of the National Institutes of Health (National Institute on Aging) [1ZIAAG000935, 1ZIANS003154, 1ZIANS0030033, 1ZIANS003034]
- Intramural Research Program of the National Institutes of Health (National Institute of Neurological Disorders and Stroke) [1ZIAAG000935, 1ZIANS003154, 1ZIANS0030033, 1ZIANS003034]
- MRC [G0502157, G0400074, G0900652, UKDRI-1009, G1100540, MR/N008324/1, MR/L016397/1] Funding Source: UKRI
By conducting whole-genome sequencing and genetic analysis, researchers have identified common genetic risk factors and pathways shared between Lewy body dementia, Alzheimer's disease, and Parkinson's disease. This provides a deeper understanding of the complex genetic architecture of these age-related neurodegenerative conditions.
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.
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