rs11914312 - WWP1P1 - ST3GAL6-AS1

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases - Unknown journal (n.d.) · Unknown authors · PubMed 35446786

  ABSTRACT: Uromodulin (UMOD) is a major risk gene for monogenic and complex forms of kidney disease. The encoded kidney-specific protein uromodulin is highly abundant in urine and related to chronic kidney disease, hypertension, and pathogen defense. To gain insights into potential systemic roles, we performed genome-wide screens of circulating uromodulin using complementary antibody-based and aptamer-based assays. We detected 3 and 10 distinct significant loci, respectively. Integration of antibody-based results at the UMOD locus with functional genomics data (RNA-Seq, ATAC-Seq, Hi-C) of primary human kidney tissue highlighted an upstream variant with differential accessibility and transcription in uromodulin-synthesizing kidney cells as underlying the observed cis effect. Shared associati

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