Clinical significance of SLC12A3 gene polymorphisms in diabetic nephropathy

为了评估SLC12A3功能改变引起的氯化钠重吸收障碍在糖尿病肾病发病和进展中的可能作用，我们研究了SLC12A3遗传变异与糖尿病肾病的关系。首先，我们展示了SLC12A3 snp在日本普通人群中的基因型频率。此外，目前的结果表明，T180K突变与糖耐量受损（IGT）有关，T180K突变可能不受IGT的影响。然而，我们没有发现SLC12A3基因启动子和编码区的snp与糖尿病肾病相关。因此，提示SLC12A3基因snp可能不是糖尿病肾病的遗传危险因素。

To assess possible roles of disorders of sodium-chloride reabsorption induced by functional changes in SLC12A3 in the pathogenesis and progression of diabetic nephropathy, we studied the association of genetic variations of SLC12A3 with diabetic nephropathy. First of all, we showed the genotypes frequency of SLC12A3 SNPs in a Japanese general population. In addition, the present results suggested that the T180K mutation is associated with impaired glucose tolerance (IGT) and that the T180K mutation may be protected from IGT. However, we did not show that SNPs in the promoter and coding region of the SLC12A3 gene are associated with diabetic nephropathy. Therefore, it is suggested that SNPs of the SLC12A3 gene may not be genetic risk factors for diabetic nephropathy.