rs731839

This variant is located in the PEPD gene.

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GWAS Catalog Trait Associations (11)

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

metalloproteinase inhibitor 4 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 7.0e-15
N 47,745
Large GWAS
European

triglyceride measurement, body fat percentage

Huang LO et al. “Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.” Nature Metabolism 3(2):228-243 (2021)
Allele A
OR —
p 9.0e-13
N 278,577
Large GWAS
multi-ancestry

lymphocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 1.0e-12
N 408,112
Large GWAS
European

insulin measurement

Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)
Allele A
OR —
β 0.012
p 4.0e-11
N 151,013
Large GWAS
European

high density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.027
p 3.0e-10
N 94,674
Large GWAS
multi-ancestry
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.02
p 4.0e-8
N 222,097
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.022
p 3.0e-9
N 94,595
Large GWAS
European

triglyceride measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.022
p 3.0e-9
N 94,595
Large GWAS
European
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.02
p 3.0e-9
N 206,044
Large GWAS
multi-ancestry

blood insulin amount

Lagou V et al. “Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.” Nature Communications 12(1):24 (2021)
Allele A
OR 0.01
p 2.0e-8
N 98,210
Large GWAS
European

adiponectin measurement

Sarsani V et al. “A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin.” Hgg Advances 5(1):100252 (2024)
Allele A
OR 0.04
p 9.0e-18
N 38,609
Meta-analysisLarge GWAS
European
Dastani Z et al. “Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.” Plos Genetics 8(3):e1002607 (2012)
Allele A
OR 0.03
p 8.0e-12
N 29,347
Meta-analysisLarge GWAS
European

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.11
p 4.0e-9
N 1,028,980
Large GWAS
multi-ancestry
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.12
p 3.0e-9
N 810,865
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium
AssociationN=26,760Stephanie A. Bien et al.(2017)· Diabetologia

Transethnic fine-mapping study of glycaemic traits in 26,760 participants (Hispanic/Latino, African, Asian, and Native American) using the Metabochip. Replicated 31/39 fasting glucose and 14/17 fasting insulin loci from European GWAS. Identified two novel secondary signals at G6PC2-rs477224 and GCK-rs2908290, a population-specific signal at G6PC2-rs77719485 in African ancestry, and one novel locus at SLC17A2-rs75862513 for fasting insulin.

Traits studied:Fasting glucoseFasting insulinType 2 diabetes
PubMedDOIMetascience Observatory

About PEPD

This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

View all PEPD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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