rs2057681

This is a regulatory region variant variant in the PON1 gene.

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GWAS Catalog Trait Associations (2)

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 G

OR —

p 1.0e-303

N 2,136

Large GWAS

European

metabolite measurement

Mun-Gwan Hong et al. “A Genome-Wide Assessment of Variability in Human Serum Metabolism” Human Mutation (2013)

Allele G

OR —

p 7.0e-15

N 402

Small GWAS

European

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Research that mentions this SNP (1)

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A Genome-Wide Assessment of Variability in Human Serum Metabolism

AssociationN=891Mun-Gwan Hong et al.(2013)· Human Mutation

A genome-wide association study (GWAS) of serum metabolic quantitative trait loci (mQTLs) in 891 Swedish men identified seven replicating loci (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with variants showing significant associations with metabolite levels (P = 10^-13 to 10^-91). rs4345897:A>G in PYROXD2 showed the strongest association with caprolactam (P = 2.40 × 10^-91), while rs174549:A>G in FADS1 associated with glycerolphosphocholine (P = 1.91 × 10^-30). Pathway analysis implicated genes with acyl-CoA dehydrogenase activity (ACADS, ACADM, ACAD8, ACAD10, ACAD11, ACOXL) and mQTL SNPs were enriched across GWAS catalog regions.

Traits studied:BilirubinButyrylcarnitineCaprolactamDimethylheptanoylcarnitineGlycerolphosphocholineGlycochenodeoxycholic acidHexanoylcarnitineSerum metabolitesStearoylcarnitine

PubMed DOI Metascience 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]