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Article

Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels.

Journal of Alzheimer's disease : JAD - 1 Jan 2010

Kauwe John S K, Cruchaga Carlos, Bertelsen Sarah, Mayo Kevin, Latu Wayne, Nowotny Petra, Hinrichs Anthony L, Fagan Anne M, Holtzman David M, Goate Alison M

Abstract excerpt

Recent large-scale genetic studies of late-onset Alzheimer's disease have identified risk variants in CALHM1, GAB2, and SORL1. The mechanisms by which these genes might modulate risk are not definitively known. CALHM1 and SORL1 may alter amyloid-β (Aβ) levels and GAB2 may influence phosphorylation of the tau protein. In this study we have analyzed disease associated genetic variants in each of these genes for...

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Source

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Identifiers

PMID: 20634593
DOI: 10.3233/JAD-2010-091711
PMCID: PMC3032214

Genes

CALHM1
GAB2
SORL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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