Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

BACKGROUND: Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative use for genetic counseling or preventive trials....

Descripción completa

Detalles Bibliográficos
Autores principales: Schramm, Catherine, Charbonnier, Camille, Zaréa, Aline, Lacour, Morgane, Wallon, David, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Alarcon, Flora, Campion, Dominique, Nuel, Grégory, Nicolas, Gaël
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9238165/
https://www.ncbi.nlm.nih.gov/pubmed/35761418
http://dx.doi.org/10.1186/s13073-022-01070-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9238165/
https://www.ncbi.nlm.nih.gov/pubmed/35761418
http://dx.doi.org/10.1186/s13073-022-01070-6

Ejemplares similares