Which genetic variations have been associated with the development of albuminuria in the setting of chronic kidney disease (CKD)?

Updated: Jul 21, 2021
  • Author: Pradeep Arora, MD; Chief Editor: Vecihi Batuman, MD, FASN  more...
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A review of 16 single-nucleotide polymorphisms (SNPs) that had been associated with variation in GFR found that development of albuminuria was associated mostly with an SNP in the SHROOM3 gene. [12] Even accounting for this variant, however, there is evidence that some unknown genetic variant influences the development of albuminuria in CKD. This study also suggests a separate genetic influence on development of albuminuria versus reduction in GFR. [12]

A genome-wide association study (GWAS) that included over 130,000 patients found 6 SNPs associated with reduced GFR, located in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. [13] The SNP in SLC47A1 was associated with decreased GFR in nondiabetic individuals, whereas SNPs located in the DNAJC16 and CDK12 genes were associated with decreased GFR in individuals younger than 65 years. [13]

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