rs854572

This is a upstream gene variant variant in the PON1 gene.

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GWAS Catalog Trait Associations (11)

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

arylesterase enzyme measurement

Tang WH et al. “Clinical and genetic association of serum paraoxonase and arylesterase activities with cardiovascular risk.” Arteriosclerosis, Thrombosis, and Vascular Biology 32(11):2803-12 (2012)
Allele C
OR —
p 5.0e-116
N 2,136
Large GWAS
European

level of platelet glycoprotein Ib beta chain in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.05
p 2.0e-20
N 47,745
Large GWAS
European

phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 3.0e-16
N 136,016
Large GWAS
multi-ancestry

level of adenine phosphoribosyltransferase in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.05
p 6.0e-15
N 47,745
Large GWAS
European

cholesterol to total lipids in small LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in small LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 4.0e-12
N 450,015
Large GWAS
multi-ancestry

total lipids in small HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 3.0e-10
N 136,016
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 7.0e-10
N 136,016
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Impact of inflammation, gene variants, and cigarette smoking on coronary artery disease risk
AssociationN=1,959Mahmoud Merhi et al.(2015)· Inflammation Research

Case-control study of 1,959 Lebanese subjects investigating genetic variants in inflammatory pathway genes and coronary artery disease (CAD) risk. Four variants showed significant associations: rs4769874 (ALOX5AP, OR=1.54, p=0.011), rs9579646 (ALOX5AP, OR=0.76, p=0.001), rs4646903 (CYP1A1, OR=1.68, p=0.019), and rs854560 (PON1, OR=1.36, p=0.017). A significant smoking-gene interaction was found with rs4646903 in current smokers (OR=0.52, p=0.037).

Traits studied:Coronary artery disease
PubMedDOIMetascience Observatory

About PON1

This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]

View all PON1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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