rs670

This is a regulatory region variant variant in the APOA1 gene.

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GWAS Catalog Trait Associations (1)

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

beta-endorphin measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.540
p 8.0e-64
N 3,301
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.25
p 2.0e-43
N 10,708
Large GWAS
European
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Research that mentions this SNP (1)

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Lower plasma apolipoprotein A1 levels are found in Parkinson's disease and associate with apolipoprotein A1 genotype
AssociationN=2,927Christine R. Swanson et al.(2015)· Movement Disorders

This study demonstrates that Parkinson's disease patients have significantly lower plasma apolipoprotein A1 (ApoA1) levels compared to controls (p<0.001), and that ApoA1 levels are associated with APOA1 promoter SNP rs670 genotype (rs670 GG carriers have lower levels). The rs670 GG genotype shows a trend toward association with PD (OR: 1.1; p=0.10) in 1930 PD cases versus 997 controls. The findings suggest that plasma ApoA1 may be a modifiable biomarker for PD risk.

Traits studied:Parkinson's disease
PubMedDOIMetascience Observatory

About APOA1

This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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