Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE Previous studies have suggested an association between hyperuricemia and gout susceptibility relative to dysfunctional ABCG2 variants, with rs2231142 (Q141K) being the most common. 30894219

2019

dbSNP: rs2231142
rs2231142
T 0.800 GeneticVariation GWASCAT Whereas the rs2231142 in ABCG2 gene had significant associations between gout and controls, between gout and hyperuricemia, and between hyperuricemia and controls (all p-values < 10<sup>-7</sup>), and the ORs were 4.34, 3.37 and 2.15 (all p-values < 0.001) after adjustment of potential confounders, respectively. 29453348

2018

dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE Adenosine 5'-triphosphate-binding cassette subfamily G member 2 (ABCG2) is a urate transporter, and common dysfunctional variants of ABCG2, non-functional Q126X (rs72552713) and semi-functional Q141K (rs2231142), are risk factors for hyperuricemia and gout. 29342419

2018

dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE Whereas the rs2231142 in ABCG2 gene had significant associations between gout and controls, between gout and hyperuricemia, and between hyperuricemia and controls (all p-values < 10<sup>-7</sup>), and the ORs were 4.34, 3.37 and 2.15 (all p-values < 0.001) after adjustment of potential confounders, respectively. 29453348

2018

dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE Three SNPs, URAT1 rs11231825, GLUT9 rs16890979 and ABCG2 rs2231142, previously associated in our population with hyperuricemia and gout, were analyzed in 27 patients with HPRT deficiency treated with allopurinol for at least 5 years. 29879316

2018

dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE The rs2231142 allele G was the protective factor in Uygur hyperuricemia patients. 30197413

2018

dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE The rs2231142 SNP is associated with serum UA levels and hyperuricemia in Taiwanese patients and it occurs predominantly in male or obese patients. 26792383

2017

dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE The contributions of age, sex, ancestry, Q141K genotype for ABCG2, FCU, sugar-sweetened beverage and alcohol consumption, metabolic syndrome disorders and measures of renal function to the risk of hyperuricaemia were evaluated by comparing hyperuricaemic (serum urate≥0.42 mmol/L, n=448) with normouricaemic (serum urate<0.42 mmol/L, n=344) participants using stepwise logistic regression. 26835700

2016

dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4×10(-50)) and ABCG2 rs2231142 for hyperuricemia (p3.6×10(-10)). 23238572

2013

dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE Finally, we have demonstrated the utility of using small molecules to correct the Q141K defect in expression and function as a possible therapeutic approach for hyperuricemia and gout. 23493553

2013

dbSNP: rs2231142
rs2231142
0.800 GeneticVariation BEFREE Associations of the rs2231142 variant with serum uric acid levels and prevalence of gout and hyperuricaemia were examined. 20421215

2010