rs2078267

This is a regulatory region variant variant in the SLC22A11 gene.

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GWAS Catalog Trait Associations (4)

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

urate measurement

Köttgen A et al. “Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.” Nature Genetics 45(2):145-54 (2013)
Allele C
OR 0.07
p 9.0e-38
N 110,347
Large GWAS
European
Tin A et al. “Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.” Nature Genetics 51(10):1459-1474 (2019)
Allele C
OR 0.16
p 2.0e-15
N 457,690
Large GWAS
multi-ancestry
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 C
OR 6.80
p 2.0e-26
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 C
OR 0.07
p 1.0e-10
N 17,247
Large GWAS
European

gout

Sandoval-Plata G et al. “Variants in urate transporters, ADH1B, GCKR and MEPE genes associate with transition from asymptomatic hyperuricaemia to gout: results of the first gout versus asymptomatic hyperuricaemia GWAS in Caucasians using data from the UK Biobank.” Annals of the Rheumatic Diseases 80(9):1220-1226 (2021)
Allele C
OR 1.28
p 2.0e-37
N 71,473
Major Consortium StudyLarge GWAS
European
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele C
OR 0.84
p 1.0e-16
N 241,956
Large GWAS
Hispanic or Latin American

uric acid measurement

Giri AK et al. “Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.” Scientific Reports 6:21440 (2016)
Allele A
OR 10.54
p 3.0e-11
N 1,109
Large GWAS
South Asian

body mass index

Giri AK et al. “Multifaceted genome-wide study identifies novel regulatory loci in SLC22A11 and ZNF45 for body mass index in Indians.” Molecular Genetics and Genomics : Mgg 295(4):1013-1026 (2020)
Allele A
OR 0.45
p 5.0e-8
N 1,142
Large GWAS
South Asian
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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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The frequency of single nucleotide polymorphisms and their association with uric acid concentration based on data from genome-wide association studies in the Korean population
AssociationN=2,359Chang-Nam Son et al.(2014)· Rheumatology International

A two-part genetic association study in Korean populations examining SNP associations with serum uric acid (SUA) concentration. Study 1 compared minor allele frequencies of 40 SNPs associated with SUA across Korean, Japanese, and European descent populations in 1,957 subjects. Study 2 analyzed associations in 402 RA patients, finding rs12734001 (PPP1R12B) most significantly associated with SUA levels (P_trend = 2.29 × 10^-9) and rs3741414 (INHBC) with P_trend = 0.01. Results showed Korean SNP frequencies were more similar to Japanese than European populations.

Traits studied:gouthyperuricemiaserum uric acid concentration
PubMedDOIMetascience Observatory

About SLC22A11

The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

View all SLC22A11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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