rs10941694 - MRPS30 - HCN1

Magnitude 2.8 · 1 study on file

Reported associations

• Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones-Role of Age and Comorbid Diseases - Unknown journal (n.d.) · Unknown authors · PubMed 20686651

  ABSTRACT: 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 = 4.1×10−10). 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 = 1.3×10−23) but not in a smaller set of healthy D

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