rs3114020

This variant is located in the ABCG2 gene.

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GWAS Catalog Trait Associations (1)

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 C
OR 1.89
p 9.0e-35
N 2,158
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genome‐wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response
AssociationN=2,027Wen CC et al.(2015)· Clinical Pharmacology &amp; Therapeutics

A genome-wide association study of 2,027 subjects from the Kaiser Permanente GERA cohort identified ABCG2 as a key determinant of allopurinol response for treating hyperuricemia/gout. The missense variant rs2231142 (Q141K) was significantly associated with reduced serum uric acid reduction (P = 3 × 10^-7 in meta-analysis, accounting for 1.1% of variance). Functional studies confirmed that BCRP (encoded by ABCG2) transports allopurinol and oxypurinol, and the Q141K variant reduces this transport.

Traits studied:Allopurinol response (serum uric acid reduction)GoutHyperuricemia
PubMedDOIMetascience Observatory

About ABCG2

The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

View all ABCG2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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