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GWAS meta-analysis of cerebrospinal fluid Alzheimer's biomarkers reveals loci regulating lipids, brain volume and autophagy

Cerebrospinal fluid amyloid beta 42, total tau, and phosphorylated tau 181 are well accepted markers of Alzheimer’s disease. These biomarkers better reflect disease pathogenesis compared to clinical diagnosis. Here, we perform a genome wide association study meta-analysis including 18,948 individual...

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Main Authors: Timsina, Jigyasha (Author) , Jiang, Chenyang (Author) , McCartney, Daniel L. (Author) , Tao, Feifei (Author) , Dalmasso, Maria Carolina (Author) , Najar, Jenna (Author) , Anastasi, Federica (Author) , Rujescu, Dan (Author) , Hausner, Lucrezia (Author) , Frölich, Lutz (Author)
Format: Article (Journal)
Language:English
Published: 21 April 2026
In: Nature Communications
Year: 2026, Volume: 17, Pages: 1-24
ISSN:2041-1723
DOI:10.25673/124362
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.25673/124362
Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41467-026-71682-8
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41467-026-71682-8
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Author Notes:Jigyasha Timsina, Chenyang Jiang, Daniel L. McCartney, Feifei Tao, Maria Carolina Dalmasso, Jenna Najar, Federica Anastasi, Dan Rujescu, Lucrezia Hausner, Lutz Frölich [und viele weitere]
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Summary:Cerebrospinal fluid amyloid beta 42, total tau, and phosphorylated tau 181 are well accepted markers of Alzheimer’s disease. These biomarkers better reflect disease pathogenesis compared to clinical diagnosis. Here, we perform a genome wide association study meta-analysis including 18,948 individuals of European ancestry and identify 12 genome-wide significant loci across all three biomarkers, eight of them novel. We replicate the association of biomarkers with APOE, CR1, GMNC/CCDC50 and C16orf95/MAP1LC3B. Novel loci include BIN1 for amyloid beta and GNA12, MS4A6A, SLCO1A2 with both total tau and phosphorylated tau 181, as well as additional loci on chr. 8, near ANGPT1 and chr. 9 near SMARCA2. We also demonstrate that these variants have significant association with Alzheimer’s disease risk, disease progression and/or brain amyloidosis. The associated genes are implicated in lipid metabolism independent of APOE, coupled with autophagy and brain volume regulation driven by total tau and phosphorylated tau 181 dysregulation.
Item Description:Gesehen am 01.09.2026
Physical Description:Online Resource
ISSN:2041-1723
DOI:10.25673/124362

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