|
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 |
|
rs2231142
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The rs2231142 allele G was the protective factor in Uygur hyperuricemia patients.
|
30197413 |
2018 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs4994
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The common polymorphism rs4994 [c. T387C, p. Trp64Arg (W64R)] of the lipolysis regulator beta-3-adrenergic receptor (ADRB3) was identified as a marker in the pathogenesis of hyperuricemia.
|
21285172 |
2011 |
|
rs4994
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Trp64Arg polymorphism was associated with hyperuricemia in a Chinese male population and should be an independent risk factor for hyperuricemia.
|
23729572 |
2013 |
|
rs4994
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Trp64Arg polymorphism of the ADRB3 gene predicted the risk of developing hyperuricemia in this adult population.
|
20008926 |
2010 |
|
rs4994
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Trp64Arg polymorphism of the beta-3 adrenergic receptor may be independently associated with hyperuricemia in males.
|
17225053 |
2007 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Results from this study suggest that mutation of 5-MTHFR C677T contributes to the higher uric acid levels in both males and females and may be a risk factor for hyperuricemia.
|
17010581 |
2007 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Although the mechanism of the relationship between the C677T polymorphism and uric acid still remains unclear, these original articles showed that the MTHFR C677T polymorphism may be an independent risk factor for hyperuricemia.
|
22286863 |
2012 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We hypothesized that hyperuricemia would be associated with methylenetetrahydrofolate reductase (MTHFR) C677T and thymidylate synthase (TS) 28-bp tandem repeat polymorphism.
|
19917450 |
2009 |
|
rs3825016
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The correlation between rs3825016 polymorphism of SLC22A12 and hyperuricaemia susceptibility is possible.
|
29352852 |
2018 |
|
rs3825016
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The frequency of rs3825016 (C/T) CT genotype was significant higher in the hypertensive patients with hyperuricemia than that in the healthy controls (32.7 vs 18.8%; p = 0.02).
|
26086348 |
2015 |
|
rs1025993235
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ZPBP2 p.T69I was at the non-conserved region and was predicted to be benign by in silico analysis, whereas GPATCH8 p.A979P was at a highly conserved region and was predicted to be deleterious, which made p.A979P a conceivable candidate for juvenile-onset hyperuricemia.
|
21594610 |
2011 |
|
rs11231825
|
|
|
0.010 |
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 |
|
rs1137070
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also found that MAOA enzyme activity by rs1137070 allele was associated with hyperuricemia and gout (P for trend = 1.53 x 10(-6) vs. wild-type allele).
|
19915868 |
2010 |
|
rs11602903
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The strongest association with hyperuricaemia was observed for rs75786299 (IVS3+11A/G) with an OR of 32.05. rs7929627 (IVS7-103A/G) and rs3825017 (N82N) showed an association with hyperuricaemia with ORs of 2.56 and 2.29, respectively. rs11602903 (788A/T) and rs121907892 (W258X) were negatively correlated with hyperuricaemia with ORs of 0.350 and 0.447, respectively.
|
26603249 |
2015 |
|
rs1209613132
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ZPBP2 p.T69I was at the non-conserved region and was predicted to be benign by in silico analysis, whereas GPATCH8 p.A979P was at a highly conserved region and was predicted to be deleterious, which made p.A979P a conceivable candidate for juvenile-onset hyperuricemia.
|
21594610 |
2011 |
|
rs121907892
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The strongest association with hyperuricaemia was observed for rs75786299 (IVS3+11A/G) with an OR of 32.05. rs7929627 (IVS7-103A/G) and rs3825017 (N82N) showed an association with hyperuricaemia with ORs of 2.56 and 2.29, respectively. rs11602903 (788A/T) and rs121907892 (W258X) were negatively correlated with hyperuricaemia with ORs of 0.350 and 0.447, respectively.
|
26603249 |
2015 |