| 中文摘要 |
期刊連結：http://www.gouthyperuricemia.com Purpose: Hyperuricemia is the major risk factor for developing gout. The balance between secretion and urate reabsorption is critically linked to net uric acid elimination in urine. Findings: When the change of a genetic factor perturbs the overall homeostasis of such a renal urate-transport system, uncertain renal urate handling will show a substantial risk for hyperuricemia and may contribute to an increased gout risk and tophaceous gout occurrence. Recently, a genome-wide association study (GWAS) has identified urate transporter genes of ABCG2, SLC2A9 and SLC22A12 that are the most determinant of uric acid levels and susceptibility to gout. We would focus on the GWAS discovery of urate transporter genes in the ABCG2, SLC2A9 and SLC22A12 causing gout. Conclusion: ABCG2 mediates the apical secretion of urate in proximal tubule cells; urate reabsorption is critically regulated by SLC22A12 and SLC2A9. The effect of genes adds considerably to our understanding of the pathogenesis of gout. They may facilitate risk communication between patients and clinicians. |
