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Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

By Daniel F. Gudbjartsson, Hilma Holm, Olafur S. Indridason, Gudmar Thorleifsson, Patrick Sulem, Femmie De Vegt, Frank C. H. D’ancona, Martin Den Heijer, Thorunn Rafnar, Kristleifur Kristjansson, Unnur S. Bjornsdottir, Gudmundur I. Eyjolfsson, Lambertus A. Kiemeney, Augustine Kong, Runolfur Palsson and Unnur Thorsteinsdottir


Chronic kidney disease (CKD) is a worldwide public health problem that is associated with substantial morbidity and mortality. To search for sequence variants that associate with CKD, we conducted a genome-wide association study (GWAS) that included a total of 3,203 Icelandic cases and 38,782 controls. We observed an association between CKD and a variant with 80 % population frequency, rs4293393-T, positioned next to the UMOD gene (GeneID: 7369) on chromosome 16p12 (OR = 1.25, P =4.1610 210). This gene encodes uromodulin (Tamm-Horsfall protein), the most abundant protein in mammalian urine. The variant also associates significantly with serum creatinine concentration (SCr) in Icelandic subjects (N = 24,635, P =1.3610 223) but not in a smaller set of healthy Dutch controls (N = 1,819, P = 0.39). Our findings validate the association between the UMOD variant and both CKD and SCr recently discovered in a large GWAS. In the Icelandic dataset, we demonstrate that the effect on SCr increases substantially with both ag

Year: 2013
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