Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning
2023; BioMed Central; Volume: 15; Issue: 1 Linguagem: Inglês
10.1186/s13073-023-01233-z
ISSN1756-994X
AutoresAlexander Neumann, Olena Ohlei, Fahri Küçükali, Isabelle Bos, Jigyasha Timsina, Stephanie J. B. Vos, Dmitry Prokopenko, Betty M. Tijms, Ulf Andréasson, Kaj Blennow, Rik Vandenberghe, Philip Scheltens, Charlotte E. Teunissen, Sebastiaan Engelborghs, Giovanni B. Frisoni, Oliver Blin, Jill Richardson, Régis Bordet, Alberto Lleó, Daniel Alcolea, Julius Popp, Thomas W. Marsh, Priyanka Gorijala, Christopher Clark, Gwendoline Peyratout, Pablo Martínez‐Lage, Mikel Tainta, Richard Dobson, Cristina Legido‐Quigley, Christine Van Broeckhoven, Rudolph E. Tanzi, Mara ten Kate, Christina M. Lill, Frederik Barkhof, Carlos Cruchaga, Simon Lovestone, Johannes Streffer, Henrik Zetterberg, Pieter Jelle Visser, Kristel Sleegers, Lars Bertram,
Tópico(s)Gene expression and cancer classification
ResumoGenome-wide association studies (GWAS) of Alzheimer's disease (AD) have identified several risk loci, but many remain unknown. Cerebrospinal fluid (CSF) biomarkers may aid in gene discovery and we previously demonstrated that six CSF biomarkers (β-amyloid, total/phosphorylated tau, NfL, YKL-40, and neurogranin) cluster into five principal components (PC), each representing statistically independent biological processes. Here, we aimed to (1) identify common genetic variants associated with these CSF profiles, (2) assess the role of associated variants in AD pathophysiology, and (3) explore potential sex differences.
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