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Related Experiment Video

Updated: May 27, 2026

An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis

Published on: February 8, 2019

Identification of ABCG2 dysfunction as a major factor contributing to gout.

H Matsuo¹, T Takada, K Ichida

¹Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan. hmatsuo@ndmc.ac.jp

Nucleosides, Nucleotides & Nucleic Acids

|December 3, 2011

Summary

Mutations in the ATP-binding cassette, subfamily G, member 2 (ABCG2) gene significantly increase gout risk in Japanese individuals. Dysfunctional ABCG2 variants, particularly those with reduced urate transport, are a major cause of gout in this population.

Related Experiment Videos

Last Updated: May 27, 2026

An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis

Published on: February 8, 2019

Area of Science:

Genetics
Biochemistry
Human Disease

Background:

The ATP-binding cassette, subfamily G, member 2 (ABCG2) gene is implicated in gout susceptibility and serum uric acid levels.
ABCG2 functions as a transporter for nucleotide analogs similar to urate and possesses common reduced-functionality variants.
ABCG2 is a potential urate secretion transporter and a candidate gene for gout.

Purpose of the Study:

To identify candidate mutations in the ABCG2 gene associated with hyperuricemia and gout.
To investigate the functional impact of ABCG2 variants on urate transport.
To determine the association between ABCG2 gene variants and gout risk in the Japanese population.

Main Methods:

Mutation analysis of the ABCG2 gene in 90 Japanese patients with hyperuricemia.
Assessment of ATP-dependent urate transport for identified ABCG2 variants.
Haplotype frequency analysis and association study in 161 male gout patients and 865 male controls.
Genotyping of dysfunctional ABCG2 variants in 2,150 Japanese individuals.

Main Results:

Six non-synonymous mutations were identified in the ABCG2 gene.
Five variants showed reduced or eliminated ATP-dependent urate transport, with Q126X and Q141K being frequent.
Individuals with dysfunctional ABCG2 exhibited significantly increased gout risk, especially those with ≤1/4 function (OR, 25.8).
Over 50% of the Japanese population studied carried at least one dysfunctional ABCG2 variant.

Conclusions:

Combinations of dysfunctional ABCG2 variants are a major contributing factor to gout in Japanese patients.
Reduced urate transport function of ABCG2 variants is strongly associated with gout development.
The high prevalence of dysfunctional ABCG2 variants highlights their significant role in the pathogenesis of gout in Japan.