rs1532278

This is a regulatory region variant variant in the CLU gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Alzheimer's disease biomarker measurement

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.02
p 9.0e-17
N 568,836
Large GWAS
European

family history of Alzheimer’s disease

Jansen IE et al. “Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.” Nature Genetics 51(3):404-413 (2019)
Allele T
OR 5.78
p 7.0e-9
N 376,113
Meta-analysisLarge GWAS
European

refractive error, age at onset, Myopia

Tedja MS et al. “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.” Nature Genetics 50(6):834-848 (2018)
Allele T
OR 5.69
p 1.0e-8
N 170,420
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genetic Susceptibility for Alzheimer Disease Neuritic Plaque Pathology
AssociationN=725Joshua M. Shulman et al.(2013)· JAMA Neurology

A genome-wide association study of 725 deceased subjects identified genetic susceptibility loci for Alzheimer's disease neuritic plaque pathology. Beyond APOE and CR1, the study found ABCA7 (rs3764650, p=0.03) and CD2AP (rs9349407, p=0.03) associated with increased neuritic plaque burden. Notably, a novel APP locus variant (rs2829887, p=3.3×10⁻⁶) was associated with neuritic plaques and β-amyloid load in postmortem samples and independently replicated in cognitively normal PET imaging cohorts, implicating common genetic variation in amyloid pathology at pre-symptomatic AD stages.

Traits studied:Alzheimer's diseasecognitive declinefibrillar β-amyloid depositionmild cognitive impairmentneuritic plaque pathologyβ-amyloid load
PubMedDOIMetascience Observatory

About CLU

The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]

View all CLU variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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