ArticleInternational journal of molecular sciences2014
Functional polymorphisms of the ABCG2 gene are associated with gout disease in the Chinese Han male population.
Article in International journal of molecular sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.BMC medical genetics · 2020Pooled it
- A meta-analysis of the associations between the Q141K and Q126X ABCG2 gene variants and gout risk.International journal of clinical and experimental pathology · 2015Pooled it
- ABCG2 Genetic Variability in Drug Exposure and Toxicity: Implications for Clinical Practice.Toxics · 2026Review
- Association of the ABCG2 Q141K variant with gout in Kinh Vietnamese: a cross-sectional study.Clinical rheumatology · 2025Article
- rs2231142 (421 C>A, Q141K) Is More Functionally Influential than rs2231137 (34 G>A, V12M) on Anticancer Drug Resistance Mediated by theInternational journal of molecular sciences · 2025Article
- Investigating the Impact of Gut Microbiota on Gout Through Mendelian Randomization.Orthopedic research and reviews · 2024Article
- Examining the Association of Rare Allelic Variants in Urate TransportersDisease markers · 2024Article
- Response to febuxostat according to clinical subtypes of hyperuricemia: a prospective cohort study in primary gout.Arthritis research & therapy · 2023Article
- Cannabis Pharmacogenomics: A Path to Personalized Medicine.Current issues in molecular biology · 2023Review
- ABCG2 in Acute Myeloid Leukemia: Old and New Perspectives.International journal of molecular sciences · 2023Review
- Distinctive biochemistry profiles associated with hyperuricemia between Tibetans and Hans in China.Frontiers in endocrinology · 2023Article
- Multidrug efflux transporter ABCG2: expression and regulation.Cellular and molecular life sciences : CMLS · 2021Review
- Medically Important Alterations in Transport Function and Trafficking of ABCG2.International journal of molecular sciences · 2021Review
- Review
- Comprehensive Analysis ofGenes · 2020Article
- Cellular expression and function of naturally occurring variants of the human ABCG2 multidrug transporter.Cellular and molecular life sciences : CMLS · 2020Article
- Cellular Processing of the ABCG2 Transporter-Potential Effects on Gout and Drug Metabolism.Cells · 2019Review
- Impact of Q141K on the Transport of Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors by ABCG2.Cells · 2019Article
- Development of precision medicine approaches based on inter-individual variability of BCRP/Acta pharmaceutica Sinica. B · 2019Review
- Revisit gut microbiota and its impact on human health and disease.Journal of food and drug analysis · 2019Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGout is a common type of arthritis that is characterized by hyperuricemia, tophi and joint inflammation. Genetic variations in the ABCG2 gene have been reported to influence serum uric acid levels and to participate in the pathogenesis of gout, but no further data have been reported in the Han Chinese population.
methodsPeripheral blood DNA was isolated from 352 male patients with gout and 350 gout-free normal male controls. High-resolution melting analysis and Sanger sequencing were performed to identify the genetic polymorphisms V12M, Q141K and Q126X in the ABCG2 gene. Genotype and haplotype analyses were utilized to determine the disease odds ratios (ORs). A prediction model for gout risk using ABCG2 protein function was established based on the genotype combination of Q126X and Q141K.
resultsFor Q141K, the A allele frequency was 49.6% in the gout patients and 30.9% in the controls (OR 2.20, 95% confidence interval (CI): 1.77-2.74, p=8.99×10⁻¹³). Regarding Q126X, the T allele frequency was 4.7% in the gout patients and 1.7% in the controls (OR 2.91, 95% CI: 1.49-5.68, p=1.57×10⁻³). The A allele frequency for V12M was lower (18.3%) in the gout patients than in the controls (29%) (OR 0.55, 95% CI 0.43-0.71, p=2.55×10⁻⁶). In the order of V12M, Q126X and Q141K, the GCA and GTC haplotypes indicated increased disease risk (OR=2.30 and 2.71, respectively). Patients with mild to severe ABCG2 dysfunction accounted for 78.4% of gout cases.
conclusionThe ABCG2 126X and 141K alleles are associated with an increased risk of gout, whereas 12M has a protective effect on gout susceptibility in the Han Chinese population. ABCG2 dysfunction can be used to evaluate gout risk.
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