rs439401
This is a regulatory region variant variant in the APOE gene.
▶GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
fatty acid amount
polyunsaturated fatty acids to monounsaturated fatty acids ratio
body height
lipid measurement
cholesteryl ester measurement, high density lipoprotein cholesterol measurement
high density lipoprotein cholesterol measurement
aspartate aminotransferase measurement
triglyceride measurement, high density lipoprotein cholesterol measurement
docosahexaenoic acid measurement, fatty acid amount
docosahexaenoic acid to total fatty acids percentage
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Haplotype architecture of the Alzheimer's risk in the
APOE
region via co‐skewnessAssociationN=19,123Alexander M. Kulminski et al.(2020)· Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
This study examined 4960 SNP triples from five genes in the APOE region (BCAM, NECTIN2, TOMM40, APOE, APOC1) in 2789 Alzheimer's disease cases and 16,334 controls using a novel co-skewness metric to identify complex haplotypes associated with AD. The authors identified 1127 significant AD-associated SNP triples, demonstrating that complex multi-SNP haplotypes—which may not include the canonical APOE ε4 or ε2 alleles—play definitive roles in AD predisposition, with the ε4 allele showing strengthened connections to other region alleles and ε2 showing weakened connections in affected subjects.
▶A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory StudyAssociationN=2,857Ira Driscoll et al.(2019)· International Journal of Geriatric Psychiatry
A candidate gene association study of dementia risk in 2,857 older postmenopausal women from the Women's Health Initiative Memory Study examining 96 SNPs across five genes (APOE/TOMM40, BDNF, COMT, SORL1, KIBRA). The APOE/TOMM40 locus showed the strongest association (rs157582: OR=1.64, p=2.4×10⁻⁸ for probable dementia), with additional significant associations in COMT (rs737865), BDNF (rs1491850), and KIBRA (rs4320284, rs2241368, rs244904). Results support APOE/TOMM40 as a dementia risk locus and extend associations to COMT, BDNF, and KIBRA genes.
About APOE
The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]
View all APOE variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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