rs10011796 - ABCG2

Magnitude 2.2 · 7 studies on file

Reported associations

• Association between polymorphisms and allopurinol response in gout patients: a systematic review and meta-analysis. - Pharmacogenomics (2026) · Lee JW, Badrul Hisham MD, Low XY, Teh LK · PubMed 41472487

  This systematic review and meta-analysis aimed to investigate the association between polymorphisms and allopurinol response in gout patients. A comprehensive search of Scopus, PubMed, Web of Science, EBSCOhost, and the Clinical Pharmacogenomic Resource was conducted for observational studies up to May 2025. Two authors independently screened studies, extracted data, and assessed study quality using the Newcastle-Ottawa Scale. Pooled odds ratios with 95% confidence intervals were calculated using a random-effects model across codominant, dominant, and recessive genetic models. Statistical heterogeneity was evaluated using the I statistic, and sensitivity analyses were performed. Six studies met the inclusion criteria for the review, and five were included in the meta-analysis. A significan

• Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout. - Arthritis & rheumatology (Hoboken, N.J.) (2023) · Sumpter NA, Takei R, Cadzow M, Topless RKG, Phipps-Green AJ, Murphy R, de Zoysa J, Watson H, Qasim M, Lupi AS, Abhishek A, Andrés M, Crișan TO, Doherty M, Jacobsson L, Janssen M, Jansen TL, Joosten LAB, Kapetanovic M, Lioté F, Matsuo H, McCarthy GM, Perez-Ruiz F, Riches P, Richette P, Roddy E, Stiburkova B, So A, Tausche AK, Torres RJ, Uhlig T, Major TJ, Stamp LK, Dalbeth N, Choi HK, Vazquez AI, Leask MP, Reynolds RJ, Merriman TR · PubMed 36281732

  To determine whether a gout polygenic risk score (PRS) is associated with age at gout onset and tophaceous disease in European, East Polynesian, and West Polynesian men and women with gout. A 19-variant gout PRS was produced in 7 European gout cohorts (N = 4,016), 2 East Polynesian gout cohorts (N = 682), and 1 West Polynesian gout cohort (N = 490). Sex-stratified regression models were used to estimate the relationship between the PRS and age at gout onset and tophaceous disease. The PRS was associated with earlier age at gout onset in men (β = -3.61 in years per unit PRS [95% confidence interval (95% CI) -4.32, -2.90] in European men; β = -6.35 [95% CI -8.91, -3.80] in East Polynesian men; β = -3.51 [95% CI -5.46, -1.57] in West Polynesian men) but not in women (β = 0.0

• The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool. - British journal of clinical pharmacology (2019) · Wright DFB, Dalbeth N, Phipps-Green AJ, Merriman TR, Barclay ML, Drake J, Tan P, Horne A, Stamp LK · PubMed 29341237

  This research aims to evaluate the predictive performance of a published allopurinol dosing tool. Allopurinol dose predictions were compared to the actual dose required to achieve serum urate (SU) <0.36 mmol l using mean prediction error. The influence of patient factors on dose predictions was explored using multilinear regression. Allopurinol doses were overpredicted by the dosing tool; however, this was minimal in patients without diuretic therapy (MPE 63 mg day , 95% CI 40-87) compared to those receiving diuretics (MPE 295 mg day , 95% CI 260-330, P < 0.0001). ABCG2 genotype (rs2231142, G>T) had an important impact on the dose predictions (MPE 201, 107, 15 mg day for GG, GT and TT, respectively, P < 0.0001). Diuretic use and ABCG2 genotype explained 53% of the variability i

• Association between ABCG2 rs2231142 and poor response to allopurinol: replication and meta-analysis. - Rheumatology (Oxford, England) (2018) · Wallace MC, Roberts RL, Nanavati P, Miner JN, Dalbeth N, Topless R, Merriman TR, Stamp LK · PubMed 29342288

  ABCG2 rs2231142 (Q141K) has been reported to be associated with poor response to allopurinol, while there are conflicting data on the association between the genetically independent ABCG2 rs10011796 variant and allopurinol response. The aim of this study was to replicate the association of ABCG2 rs2231142 and rs10011796 with allopurinol response and perform a meta-analysis. Participants in the Long-term Allopurinol Safety Study Evaluating Outcomes in Gout Patients (LASSO) (n = 299) were studied. In patients with evidence of adherence to allopurinol therapy (plasma oxypurinol >20 μmol/l), good response was defined as serum urate <6 mg/dl on allopurinol ⩽300 mg/day and poor response as serum urate ⩾ 6 mg/dl despite allopurinol >300 mg/day. Association of rs2231142 and rs10011796 with po

• ABCG2 loss-of-function polymorphism predicts poor response to allopurinol in patients with gout. - The pharmacogenomics journal (2017) · Roberts RL, Wallace MC, Phipps-Green AJ, Topless R, Drake JM, Tan P, Dalbeth N, Merriman TR, Stamp LK · PubMed 26810134

  Many patients fail to achieve the recommended serum urate (SU) target (<6 mgdl ) with allopurinol. The aim of our study was to examine the association of ABCG2 with SU target in response to standard doses of allopurinol using a cohort with confirmed adherence. Good response was defined as SU<6 mgdl on allopurinol ⩽300 mgd and poor response as SU⩾6 mgdl despite allopurinol >300 mgd . Adherence was confirmed by oxypurinol concentrations. ABCG2 genotyping was performed using pre-designed single nucleotide polymorphism (SNP) TaqMan assays. Of 264 patients, 120 were good responders, 68 were poor responders and 76 were either non-adherent or could not be classified. The minor allele of ABCG2 SNP rs2231142 conferred a significantly increased risk of poor response to allopurinol (odd

• Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response - Unknown journal (n.d.) · Unknown authors · PubMed 25676789

  ABSTRACT: The first-line treatment of hyperuricemia, which causes gout, is allopurinol. The allopurinol response is highly variable, with many users failing to achieve target serum uric acid (SUA) levels. No genome-wide association study (GWAS) has examined the genetic factors affecting allopurinol effectiveness. Using 2,027 subjects in Kaiser Permanente's Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort, we conducted a GWAS of allopurinol-related SUA reduction, first in the largest ethnic group, non-Hispanic white (NHW) subjects, and then in a stratified transethnic meta-analysis. ABCG2, encoding the efflux pump BCRP, was associated with SUA reduction in NHW subjects (P = 2 × 10−8), and a missense allele (rs2231142) was associated with a reduced response (P = 3

• Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol - Unknown journal (n.d.) · Unknown authors · PubMed 30924126

  ABSTRACT: Allopurinol, which lowers uric acid (UA) concentration, is increasingly being recognized for its benefits in cardiovascular and renal disease. However, response to allopurinol is variable. We gathered samples from 4,446 multiethnic subjects for a genome-wide association study of allopurinol response. Consistent with previous studies, we observed that the Q141K variant in ABCG2 (rs2231142), which encodes the efflux pump breast cancer resistance protein (BCRP), associated with worse response to allopurinol. However, for the first time this association reached genome-wide level significance (P = 8.06 × 10−11). Additionally, we identified a novel association with a variant in GREM2 (rs1934341, P = 3.22 × 10−6). In vitro studies identified oxypurinol, the active metabolite of al

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