|(A;A)||3.5||Higher risk for gout|
|(A;G)||2.8||2.8x higher risk for gout|
|(G;G)||0||common in complete genomics|
rs72552713, also known as Gln126Ter, is a SNP in the ABCG2 gene.
gout association, based on [PMID 25646370]; note that this publication refers to risk allele (T) based on the minus strand, whereas for dbSNP and SNPedia, rs72552713 is defined as on the plus strand, so therefore the risk allele is (A).
The case-control analysis of 1993 patients with gout and 1334 controls concluded that rs72552713(A) was significantly associated with gout (odds ratio 2.86, CI:2.1-3.8,p=4.4x10e-12). The risk is independent of the risk posed by another ABCG2 gene SNP, rs2231142, since these two SNPs are on different haplotypes. Both ABCG2 SNPs are, however, associated with the ROL gout subtype, defined as when urinary urate excretion (UUE) is over 25.0 mg/h/1.73 m2 (600 mg/day/1.73 m2) and urate clearance (urate clearance/creatinine clearance ratio, FEUA) is 5.5% or over.[PMID 25646370]
|Disease||Uric acid concentration Blood group|
|CLNDBN||Uric acid concentration, serum, quantitative trait locus 1 Blood group, Junior system|
|CLNSRC||OMIM Allelic Variant|