rs45499402

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GWAS Catalog Trait Associations (7)

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

uric acid measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.15

p —

N 473,241

Large GWAS

multi-ancestry

4-hydroxychlorothalonil measurement

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele C

OR 0.57

p 2.0e-131

N 8,809

Large GWAS

European

sulfate of piperine metabolite C18H21NO3 (3) measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele C

OR 0.32

p 6.0e-15

N 4,868

Large GWAS

European

sulfate of piperine metabolite C18H21NO3 (1) measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele C

OR 0.30

p 3.0e-13

N 4,764

Large GWAS

European

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)

Allele G

OR 0.23

p 9.0e-13

N 3,926

Large GWAS

Hispanic or Latin American

metabolite measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele C

OR 0.30

p 2.0e-12

N 4,326

Large GWAS

European

gout

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 1.76

p 4.0e-111

N 241,956

Large GWAS

Hispanic or Latin American

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Research that mentions this SNP (1)

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Genome‐Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol

AssociationN=4,446Deanna J. Brackman et al.(2019)· Clinical Pharmacology & Therapeutics

This genome-wide association study of 4,446 allopurinol-treated subjects identified BCRP Q141K (rs2231142) as a significant determinant of poor allopurinol response (P = 8.06 × 10⁻¹¹), with a novel suggestive association in GREM2 (rs1934341, P = 3.22 × 10⁻⁶) for better response. In vitro studies demonstrated that oxypurinol inhibits GLUT9-mediated uric acid uptake (IC₅₀ = 108 µM), suggesting a secondary mechanism of allopurinol action beyond xanthine oxidase inhibition.

Traits studied:Allopurinol responseGoutHyperuricemiaSerum uric acid

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs45499402

GWAS Catalog Trait Associations (7)

uric acid measurement

4-hydroxychlorothalonil measurement

sulfate of piperine metabolite C18H21NO3 (3) measurement

sulfate of piperine metabolite C18H21NO3 (1) measurement

serum metabolite level

metabolite measurement

gout

Research that mentions this SNP (1)

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