rs13129697

This is a downstream gene variant variant in the SLC2A9 gene.

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GWAS Catalog Trait Associations (6)

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

urate measurement

Yang Q et al. “Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.” Circulation. Cardiovascular Genetics 3(6):523-30 (2010)
Allele G
OR 22.21
p 2.0e-242
N 28,283
Large GWAS
European
Huffman JE et al. “Modulation of genetic associations with serum urate levels by body-mass-index in humans.” Plos One 10(3):e0119752 (2015)
Allele G
OR 0.40
p 8.0e-150
N 15,282
Large GWAS
European
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele G
OR 0.32
p 7.0e-175
N 14,296
Large GWAS
European

uric acid measurement

Karns R et al. “Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.” Annals of Human Genetics 76(2):121-7 (2012)
Allele G
OR 28.99
p 2.0e-19
N 1,300
Large GWAS
European
Zemunik T et al. “Genome-wide association study of biochemical traits in Korcula Island, Croatia.” Croatian Medical Journal 50(1):23-33 (2009)
Allele G
OR 0.29
p 1.0e-9
N 898
Small GWAS
European

salivary metabolite measurement, urate measurement

Nag A et al. “Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels.” Human Molecular Genetics 29(5):864-875 (2020)
Allele T
OR 0.34
p 1.0e-14
N 1,419
Large GWAS
European

gout, urate measurement

Yang Q et al. “Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.” Circulation. Cardiovascular Genetics 3(6):523-30 (2010)
Allele T
OR 1.52
p 4.0e-13
N 28,283
Large GWAS
European

indolelactate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.07
p 1.0e-10
N 14,296
Large GWAS
European
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Research that mentions this SNP (2)

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Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index
AssociationN=5,097Reynolds RJ et al.(2016)· Rheumatology International

This association study examined eight validated serum urate-associated SNPs and their interactions with BMI and renal disease in predicting incident gout in the Framingham Heart Study. Four SNPs were significantly associated with gout (rs1967017 OR=1.23, rs13129697 OR=1.62, rs2199936 OR=1.63, rs675209 OR=1.20), but BMI-SNP interactions were not significant. Notably, rs1106766 (INHBC) showed a significant renal disease interaction (P=6.12E-03), exhibiting a protective effect only in individuals without renal disease.

Traits studied:GoutHyperuricemiaSerum urate levels
PubMedDOIMetascience Observatory
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A genome wide association study of plasma uric acid levels in obese cases and never‐overweight controls
AssociationN=961Li WD et al.(2013)· Obesity

A genome-wide association study of 961 individuals (520 obese cases BMI>35, 440 normal-weight controls BMI<25) identified two loci reaching genome-wide significance for plasma uric acid levels: SLC2A9 (rs6449213, P=3.15×10⁻¹²) and DIP2C (rs877282, P=4.56×10⁻⁸). Five additional genes (F5, PXDNL, FRAS1, LCORL, MICAL2) showed weaker associations (P<1×10⁻⁵), and three previously identified uric acid genes (ABCG2, SLC17A1, RREB1) received marginal support.

Traits studied:HyperuricemiaPlasma uric acid levels
PubMedDOIMetascience Observatory

About SLC2A9

This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

View all SLC2A9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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