rs1014290

This is a regulatory region variant variant in the SLC2A9 gene.

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GWAS Catalog Trait Associations (3)

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

gout

Nakayama A et al. “GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.” Annals of the Rheumatic Diseases 76(5):869-877 (2017)
Allele T
OR 1.57
p 7.0e-26
N 2,158
Large GWAS
multi-ancestry

gout, hyperuricemia

Kawamura Y et al. “Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.” Annals of the Rheumatic Diseases 78(10):1430-1437 (2019)
Allele T
OR 1.30
p 2.0e-9
N 1,948
Large GWAS
East Asian
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Research that mentions this SNP (1)

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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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