Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.

doi:10.1126/scitranslmed.3000237

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Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.

Science translational medicine - 4 Nov 2009

Matsuo Hirotaka, Takada Tappei, Ichida Kimiyoshi, Nakamura Takahiro, Nakayama Akiyoshi, Ikebuchi Yuki, Ito Kousei, Kusanagi Yasuyoshi, Chiba Toshinori, Tadokoro Shin, Takada Yuzo, Oikawa Yuji, Inoue Hiroki, Suzuki Koji, Okada Rieko, Nishiyama Junichiro, Domoto Hideharu, Watanabe Satoru, Fujita Masanori, Morimoto Yuji, Naito Mariko, Nishio Kazuko, Hishida Asahi, Wakai Kenji, Asai Yatami, Niwa Kazuki, Kamakura Keiko, Nonoyama Shigeaki, Sakurai Yutaka, Hosoya Tatsuo, Kanai Yoshikatsu, Suzuki Hiroshi, Hamajima Nobuyuki, Shinomiya Nariyoshi

Abstract excerpt

Gout based on hyperuricemia is a common disease with a genetic predisposition, which causes acute arthritis. The ABCG2/BCRP gene, located in a gout-susceptibility locus on chromosome 4q, has been identified by recent genome-wide association studies of serum uric acid concentrations and gout. Urate transport assays demonstrated that ABCG2 is a high-capacity urate secretion transporter. Sequencing of the ABCG2 gene...

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PMID: 20368174
DOI: 10.1126/scitranslmed.3000237

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ABCG2

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