SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout
作者： Veronique Vitart , Igor Rudan , Caroline Hayward , Nicola K Gray , James Floyd
DOI: 10.1038/NG.106
关键词:
摘要: Uric acid is the end product of purine metabolism in humans and great apes, which have lost hepatic uricase activity, leading to uniquely high serum uric concentrations (200?500 lM) compared with other mammals (3?120 lM)1. About 70% daily urate disposal occurs via kidneys, 5?25% human population, impaired renal excretion leads hyperuricemia2. 10% people hyperuricemia develop gout, an inflammatory arthritis that results from deposition monosodium crystals joint. We identified genetic variants within a transporter gene, SLC2A9, explain 1.7?5.3% variance concentrations, following genome-wide association scan Croatian population sample. SLC2A9 were also associated low fractional and/or gout UK, German samples. known fructose transporter3, we now show it has strong transport activity Xenopus laevis oocytes.
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