rs2472386

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GWAS Catalog Trait Associations (1)

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

high density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.024
p 1.0e-11
N 94,674
Large GWAS
multi-ancestry
Below JE et al. “Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.” Scientific Reports 6:19429 (2016)
Allele G
OR 0.09
p 8.0e-11
N 4,383
Meta-analysis
multi-ancestry
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Research that mentions this SNP (1)

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A survey ofABCA1sequence variation confirms association with dementia
AssociationN=3,770Chandra A. Reynolds et al.(2009)· Human Mutation

A genetic association study of 1,567 Swedish dementia cases (including 1,275 with Alzheimer disease) and 2,203 controls identified variants in the ABCA1 gene associated with dementia risk. The strongest association was at rs2230805 (OR = 1.39; 95% CI 1.23-1.57; P = 7.7 × 10⁻⁸), a synonymous variant in exon 5 that was also associated with reduced cerebrospinal fluid β-amyloid-42 levels. Two distinct linkage disequilibrium blocks with signals near the ABCA1 promoter and terminal exon were identified, supporting the involvement of lipid transport genes in neurodegeneration.

Traits studied:Alzheimer diseaseCerebrospinal fluid beta-amyloid-42 levelsCerebrospinal fluid tau levelsDementia
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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