rs769455

This is a variant in the APOE gene that changes a arginine to an cysteine.

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GWAS Catalog Trait Associations (3)

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

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ClinVar annotation

Pathogenic★★★☆
12 submitters28 publications

APOE-related disorder; Alzheimer disease 2 (AD2); Cardiovascular phenotype; Familial type 3 hyperlipoproteinemia; not specified

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Research that mentions this SNP (1)

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TGFB1 as a Susceptibility Gene for High Myopia
AssociationN=431Zha Y. et al.(2009)· Archives of Ophthalmology

This case-control study evaluated 10 AMD-associated SNPs in 4 genes (CFI, COL8A1, LIPC, APOE) and their association with choroidal neovascularization in highly myopic Spanish Caucasian patients (147 mCNV, 103 HM without CNV, 181 controls). SNPs rs13095226 and rs669676 in COL8A1 showed significant associations in univariate analysis (OR=2.0 and 2.4 respectively), but lost significance after Bonferroni correction. Meta-analysis of rs669676 confirmed association with myopic CNV. Only age and hypertension remained significant in multivariate analysis.

Traits studied:Age-related macular degenerationChoroidal neovascularizationHigh myopiaMyopic choroidal neovascularization
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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