Abstract
Common genetic variations have important roles in the development and progression of chronic kidney disease (CKD), but so far most single-nucleotide polymorphisms (SNPs) described tend to have a small effect size. Uromodulin or Tamm-Horsfall, is the most abundant urinary protein in physiological conditions. Rare mutations in its encoding gene UMOD cause a Mendelian Medullary cystic kidney disease type 2 presenting in childhood. Common variants of UMOD are implicated in GFR trait in the general population.
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