Article
The ABCG2 Q141K hyperuricemia and gout associated variant illuminates the physiology of human urate excretion.
Nature communications - 2 Jun 2020
Hoque Kazi Mirajul, Dixon Eryn E, Lewis Raychel M, Allan Jordyn, Gamble Gregory D, Phipps-Green Amanda J, Halperin Kuhns Victoria L, Horne Anne M, Stamp Lisa K, Merriman Tony R, Dalbeth Nicola, Woodward Owen M
Abstract excerpt
The pathophysiological nature of the common ABCG2 gout and hyperuricemia associated variant Q141K (rs2231142) remains undefined. Here, we use a human interventional cohort study (ACTRN12615001302549) to understand the physiological role of ABCG2 and find that participants with the Q141K ABCG2 variant display elevated serum urate, unaltered FEUA, and significant evidence of reduced extra-renal urate excretion. We...
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