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 Detalle_Publicacion

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

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 53, pages294 - 303 (2021)

Editorial: Nature Publishing Group

 Fecha de publicación: 01/02/2021

Nº de páginas: 27

Tipo de publicación: Artículo de Revista

 DOI: 10.1038/s41588-021-00785-3

ISSN: 1061-4036,1546-1718

Url de la publicación: https://doi.org/10.1038/s41588-021-00785-3

Autores/as

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.