rs4345897

This is a synonymous variant in the PYROXD2 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

metabolite measurement

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

Allele G

OR —

p 2.0e-91

N 402

Small GWAS

European

urinary metabolite measurement

Rueedi R et al. “Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.” Plos Genetics 10(2):e1004132 (2014)

Allele A

OR 0.34

p 2.0e-19

N 835

Small GWAS

multi-ancestry

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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 PYROXD2

Predicted to enable oxidoreductase activity. Involved in mitochondrion organization. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]