rs10011796
This is a intron variant variant in the ABCG2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
gout
▶Research that mentions this SNP (2)
▶Genome‐Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for AllopurinolAssociationN=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.
▶Genome‐wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug responseAssociationN=2,027Wen CC et al.(2015)· Clinical Pharmacology & 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.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…