Institute of Rheumatology, Tokyo Women's Medical University, 10-22 Kawada-cho, Sinjuku-ku, Tokyo 162-0054, Japan.
Ann Rheum Dis. 2010 Jun;69(6):1232-4. doi: 10.1136/ard.2008.106856. Epub 2009 Jun 24.
Molecular biological approaches have recently identified urate transporters in renal proximal tubular cells. Human sodium-dependent phosphate cotransporter type 1 encoded by SLC17A1 is a urate transporter localised to the renal proximal tubular cells and candidate molecule to secret urate from renal tubular cells to urine. This study investigated the roles of SLC17A1 in the development of gout.
Single nucleotide polymorphisms in the human SLC17A1 gene (rs1165176, rs1165151, rs1165153, rs1165196, rs1165209, rs1165215, rs1179086, rs3799344 and rs3757131) were selected, and an association study was conducted using male patients with gout (n=175) and male controls (n=595).
There were significant differences between gout and control groups in the distribution of genotypes at rs1165196 (T806C; Ile269Thr, odds ratio (OR) 0.55, p=0.0035), rs1179086 (OR 0.57, p=0.0018) and rs3757131 (OR 0.54, p=0.0026). In controls, T806C alone had no effect on serum uric acid (sUA) levels. However, T806C showed significant interaction with a reduction of sUA in obese individuals (body mass index > or = 25) using multiple regression analysis.
Our data suggest that SLC17A1 polymorphisms are associated with the development of gout.
分子生物学方法最近在肾近端管状细胞中鉴定出尿酸转运体。人源钠依赖性磷酸盐协同转运蛋白 1 由 SLC17A1 编码，是一种位于肾近端管状细胞的尿酸转运体，也是从肾管状细胞向尿液分泌尿酸的候选分子。本研究探讨了 SLC17A1 在痛风发病机制中的作用。
选择人类 SLC17A1 基因中的单核苷酸多态性（rs1165176、rs1165151、rs1165153、rs1165196、rs1165209、rs1165215、rs1179086、rs3799344 和 rs3757131），并对 175 例男性痛风患者和 595 例男性对照进行了关联研究。
rs1165196（Ile269Thr，T806C；806 位丝氨酸被丙氨酸取代）、rs1179086（806 位丝氨酸被丙氨酸取代）和 rs3757131（T806C；806 位丝氨酸被丙氨酸取代）基因型在痛风组和对照组中的分布存在显著差异（OR0.55，p=0.0035；OR0.57，p=0.0018；OR0.54，p=0.0026）。在对照组中，T806C 单独对血清尿酸（sUA）水平没有影响。然而，通过多元回归分析发现，T806C 与肥胖个体（体重指数≥25）sUA 降低存在显著的交互作用。
我们的数据表明 SLC17A1 多态性与痛风的发生有关。
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