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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.
Fuente: Nature Genetics, 2021, 53(3), 294-303
Publisher: Nature Publishing Group
Publication date: 01/02/2021
No. of pages: 27
Publication type: Article
DOI: 10.1038/s41588-021-00785-3
ISSN: 1061-4036,1546-1718
Publication Url: https://doi.org/10.1038/s41588-021-00785-3
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CHIA, RUTH
SABIR, MARYA S.
BANDRES-CIGA, SARA
SAEZ-ATIENZAR, SARA
REYNOLDS, REGINA H.
GUSTAVSSON, EMIL
WALTON, RONALD L.
AHMED, SARAH
VIOLLET, CORALIE
DING, JINHUI
MAKARIOUS, MARY B.
DIEZ-FAIREN, MONICA
PORTLEY, MAKAYLA K.
SHAH, ZALAK
ABRAMZON, YEVGENIYA
HERNANDEZ, DENA G.
BLAUWENDRAAT, CORNELIS
STONE, DAVID J.
ELOY MANUEL RODRIGUEZ RODRIGUEZ
JON INFANTE CEBERIO
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