rs387906567
This is a variant in the APOE gene that changes a arginine to an cysteine.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Genome‐wide Association Study of Autism Spectrum Disorder in the East Asian PopulationsReviewXiaoxi Liu et al.(2016)· Autism Research
This integrative analysis examined shared genetic pathways between autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) using literature-based disease-gene relations and gene expression data. The study identified 47 common genes associated with both diseases (2017 analysis, P = 1.66e-48) and confirmed 8 genes through expression analysis, including APOE, CDH2, ADCY8, TSPO, TOR1A, OLIG2, DISP1, and SETD1A. Pathway enrichment analysis revealed shared involvement in neurotransmitter regulation, synaptic signaling, memory, and behavioral pathways.
▶Evidence of association ofAPOEwith age-related macular degeneration - a pooled analysis of 15 studiesMeta-analysisN=21,160Gareth J. McKay et al.(2011)· Human Mutation
Pooled analysis of 15 studies (n=21,160) demonstrating that the APOE ε4 haplotype is protective against late age-related macular degeneration (AMD) (OR=0.72 per haplotype, p=4.41×10^-11), while the ε2 homozygote shows increased risk (OR=1.83, p=0.04). Extended haplotype analysis incorporating rs405509 did not identify additional risks beyond ε2 and ε4 haplotypes. Smoking was a major risk factor for progression to late AMD forms.
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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