Artículo
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
The GR@ACE study group; Jansen, Iris E.; van der Lee, Sven J.; Gomez-Fonseca, Duber; de Rojas, Itziar; Dalmasso, Maria Carolina
; Grenier Boley, Benjamin; Zettergren, Anna; Mishra, Aniket; Ali, Muhammad; Andrade, Victor; Bellenguez, Céline; Kleineidam, Luca; Küçükali, Fahri; Sung, Yun Ju; Tesí, Niccolo; Vromen, Ellen M.; Wightman, Douglas P.; Alcolea, Daniel; Alegret, Montserrat; Alvarez, Ignacio; Amouyel, Philippe; Athanasiu, Lavinia; Bahrami, Shahram; Bailly, Henri; Belbin, Olivia; Bergh, Sverre; Bertram, Lars; Biessels, Geert Jan; Blennow, Kaj
![Icon](/themes/CONICETDigital/images/conicet.png)
Fecha de publicación:
11/2022
Editorial:
Springer
Revista:
Acta Neuropathologica
ISSN:
0001-6322
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated by the European Alzheimer & Dementia Biobank (EADB), the largest collaborative effort on genetics underlying CSF biomarkers was established, including 31 cohorts with a total of 13,116 individuals (discovery n = 8074; replication n = 5042 individuals). Besides the APOE locus, novel associations with two other well-established AD risk loci were observed; CR1 was shown a locus for Aβ42 and BIN1 for pTau. GMNC and C16orf95 were further identified as loci for pTau, of which the latter is novel. Clustering methods exploring the influence of all known AD risk loci on the CSF protein levels, revealed 4 biological categories suggesting multiple Aβ42 and pTau related biological pathways involved in the etiology of AD. In functional follow-up analyses, GMNC and C16orf95 both associated with lateral ventricular volume, implying an overlap in genetic etiology for tau levels and brain ventricular volume.
Palabras clave:
ALZHEIMER’S DISEASE
,
AMYLOID-BETA
,
CEREBROSPINAL FLUID
,
GWAS
,
TAU
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(ENYS)
Articulos de UNIDAD EJECUTORA DE ESTUDIOS EN NEUROCIENCIAS Y SISTEMAS COMPLEJOS
Articulos de UNIDAD EJECUTORA DE ESTUDIOS EN NEUROCIENCIAS Y SISTEMAS COMPLEJOS
Citación
The GR@ACE study group; Jansen, Iris E.; van der Lee, Sven J.; Gomez-Fonseca, Duber; de Rojas, Itziar; et al.; Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers; Springer; Acta Neuropathologica; 144; 5; 11-2022; 821-842
Compartir
Altmétricas