|
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Together with the ABCG2 characteristics, we hypothesized that ABCG2 transports urate and its dysfunction causes hyperuricemia and gout.
|
22132966 |
2011 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
We concluded that ABCG2 gene contributed to hyperuricemia but also gout, and that it was involved in the inflammation dysregulation via augmented IL-8 release in EC.
|
29453348 |
2018 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in decreased urate excretion are major causes of hyperuricemia and gout.
|
28968913 |
2017 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results highlight a possible role of sex hormones in the regulation of ABCG2 urate transporter and its potential implications for the prevention, diagnosis, and treatment of hyperuricemia and gout.
|
23552988 |
2013 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we analyzed the ABCG2 gene in a hyperuricemia and gout cohort focusing on patients with pediatric-onset, i.e., before 18 years of age.
|
30894219 |
2019 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Because ABCG2 dysfunctional diplotypes were commonly observed in both Caucasians (16.5%) and African-Americans (16.0%), the genotyping of the two ABCG2 dysfunctional variants is useful for evaluating individual differences in the ABCG2 dysfunction which affect the pharmacokinetics of substrate drugs and hyperuricemia risk in all three ethnic groups.
|
24869748 |
2014 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Polymorphism of ABCG2 Gene in Hyperuricemia Patients of Han And Uygur Ethnicity with Phlegm/Non-Phlegm Block in Xinjiang, China.
|
30197413 |
2018 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
|
29124443 |
2018 |
|
Hyperuricemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, the possibility of treating gout and hyperuricemia by upregulating intestinal ABCG2 expression is examined.
|
29264928 |
2018 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Key findings include the reporting of 28 urate-associated loci, the discovery that ABCG2 plays a central role on extra-renal uric acid excretion, the identification of genes associated with development of gout in the context of hyperuricaemia, recognition that ABCG2 variants influence allopurinol response, and the impact of HLA-B*5801 testing in reducing the prevalence of allopurinol hypersensitivity in high-risk populations.
|
28566086 |
2017 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Therefore, ABCG2 dysfunction originating from common genetic variants has a much stronger impact on the progression of hyperuricemia than other familiar risks.
|
24909660 |
2014 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The ABCG2 141K variant and the FCU contribute strongly but independently to hyperuricaemia.
|
26835700 |
2016 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our findings indicate the importance of ABCG2 as a promising therapeutic and screening target of hyperuricemia and gout.
|
24441388 |
2014 |
|
Hyperuricemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Together with high ABCG2 expression in extra-renal tissues, our data suggest that the 'overproduction type' in the current concept of hyperuricemia be renamed 'renal overload type', which consists of two subtypes-'extra-renal urate underexcretion' and genuine 'urate overproduction'-providing a new concept valuable for the treatment of hyperuricemia and gout.
|
22473008 |
2012 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
This essentially includes our recent findings, as we serendipitously identified febuxostat, a well-used agent for hyperuricemia as a strong ABCG2 inhibitor, that possesses some promising potentials.
|
30890942 |
2019 |
|
Hyperuricemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Plasma membrane expression of breast cancer resistance protein (BCRP), a uric acid efflux transporter, was decreased under hyperuricemia, though the total cellular expression of BCRP remained constant.
|
29317200 |
2018 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Not only does the 141K polymorphism in ABCG2 lead to hyperuricemia through renal overload and renal underexcretion, but emerging evidence indicates that it also increases the risk of acute gout in the presence of hyperuricemia, early onset of gout, tophi formation, and a poor response to allopurinol.
|
28461764 |
2017 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Predictors of ULT misuse included the percentage of patients having gout (1-10%: OR=5.40, p=0.047) or receiving ULT (greater than 10-20%: OR=20.02, p=0.001)among patients seen in clinic, attendance of rheumatology conferences (OR=2.55, p=0.017), and having a close relative with hyperuricemia or gout (OR=2.45, p=0.026).
|
30520504 |
2018 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It was first identified that rs2054576 in ABCG2 is associated with hyperuricemia.
|
28776340 |
2017 |