Clinical significance of SLC12A3 gene polymorphisms in diabetic nephropathy

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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.