rs1934341
This variant is located in the GREM2 gene.
▶Research that mentions this SNP (1)
▶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.
About GREM2
This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq, Jul 2008]
View all GREM2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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