|(A;C)||2.1||1.74x increased gout risk; gefinitib takers 4x more susceptible to diarrhea|
[PMID 19506252] "Our data indicate that at least 10% of all gout cases in whites are attributable to this causal variant."
A is the risk allele. A large study totaling 7,699 participants in the Framingham cohort and 4,148 participants in the Rotterdam cohort was conducted, with genome-wide significant SNPs then replicated in 11,000+ Caucasian and ~4,000 African-American individuals who took part in the study of Atherosclerosis Risk in Communities (ARIC). This study calculated an odds ratio of 1.74 for rs2231142 (CI: 1.51-1.99, p = 3.3x10e-15). A genetic score comprised of this SNP plus 2 others may stratify risk for gout. [PMID 18834626]
Among non-small cell lung cancer patients treated with gefitinib, there's a 4-5x higher risk of diarrhea for rs2231142 heterozygotes (and presumably minor allele homozygotes), based on a study of 124 patients treated with 250mg oral gefitinib once daily.[PMID 17148776]
rs2231142 also appears to influence the effectiveness of rosuvastatin. A study of 305 Chinese patients concluded that rs2231142(A;A) individuals showed a 7% greater reduction in LDL-C levels, equivalent to a doubling of the dose.[PMID 20130569]
[PMID 19890391] Common polymorphisms influencing serum uric Acid levels contribute to susceptibility to gout, but not to coronary artery disease
[PMID 19503597] Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations
[PMID 20421215] The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people
[PMID 21918980] A comprehensive study of polymorphisms in the ABCB1, ABCC2, ABCG2, NR1I2 genes and lymphoma risk
[PMID 22015057] Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study
|Title||Genome-wide association of serum uric Acid concentration: replication of sequence variants in an island population of the Adriatic coast of croatia.|
|Odds Ratio||27.4000 None|
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19842935] Different effects of the ABCG2 c.421C>A SNP on the pharmacokinetics of fluvastatin, pravastatin and simvastatin.
[PMID 19930591] Polymorphisms in the xenobiotic transporter Multidrug Resistance 1 (MDR1) and interaction with meat intake in relation to risk of colorectal cancer in a Danish prospective case-cohort study.
[PMID 20053405] Sex and age interaction with genetic association of atherogenic uric acid concentrations.
[PMID 20162742] Predictive value of 8 genetic loci for serum uric acid concentration.
[PMID 20162743] Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series.
[PMID 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
[PMID 20470424] A three-stage approach for genome-wide association studies with family data for quantitative traits.
[PMID 20714133] Association of four genetic loci with uric acid levels and reduced renal function: the J-SHIPP Suita study.
[PMID 20837191] Gout: epitome of painful arthritis.
[PMID 20858603] A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Maori, case and control sample sets.
[PMID 20959405] The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia.
[PMID 22112610] Common variants in ABCB1, ABCC2 and ABCG2 genes and clinical outcomes among women with advanced stage ovarian cancer treated with platinum and taxane-based chemotherapy: a Gynecologic Oncology Group study.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
|summary||Significantly altered kintetics and increase plasma AUC with diflomotecan and rosuvastatin.|
[PMID 23280364] Interindividual variability in the hepatic expression of the human breast cancer resistance protein (BCRP/ABCG2): Effect of age, sex, and genotype
|Title||Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.|
|Odds Ratio||.22 [0.20-0.23] mg/dl increase|
[PMID 23827224] Association between the ABCG2 C421A polymorphism and Alzheimer's disease
[PMID 23864233] Association between serum uric acid and the metabolic syndrome among a middle- and old-age Chinese population
[PMID 24380367] Epigenetic modulation of the drug resistance genes MGMT, ABCB1 and ABCG2 in glioblastoma multiforme
[PMID 24499401] The ABCG2 gene Q141K polymorphism contributes to an increased risk of gout: A meta-analysis of 2185 cases
[PMID 23100282] Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
[PMID 23438071] The JR blood group system: identification of alleles that alter expression.
[PMID 23712608] Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.
[PMID 23778707] International Transporter Consortium commentary on clinically important transporter polymorphisms.
[PMID 24777469] The association between the polymorphism rs2231142 in the ABCG2 gene and gout risk: a meta-analysis
[PMID 24513273] A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population
|Title||Identification of low-frequency variants associated with gout and serum uric acid levels.|
|Odds Ratio||1.67 [1.43-1.92]|
|Disease||Uric acid concentration Blood group rosuvastatin response - Efficacy|
|CLNDBN||Uric acid concentration, serum, quantitative trait locus 1 Blood group, Junior system rosuvastatin response - Efficacy|
|CLNSRC||OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB UniProtKB (protein)|
|CLNACC||RCV000023341.2, RCV000023342.2, RCV000211355.1,|
[PMID 25867401] Polymorphisms of uric transporter proteins in the pathogenesis of gout in a Chinese Han population
[PMID 25128519] Tubular urate transporter gene polymorphisms differentiate patients with gout who have normal and decreased urinary uric acid excretion
[PMID 25676789] Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response
[PMID 26552468] Genetic analysis of ABCG2 and SLC2A9 gene polymorphisms in gouty arthritis in a Korean population
[PMID 26810134] ABCG2 loss-of-function polymorphism predicts poor response to allopurinol in patients with gout.
[PMID 27511497] Association analysis of five SNP variants with gout in the Minnan population in China.