Genome-wide associaton scan of serum urea in European populations identifies two novel loci


Background/objectives: Serum urea level is a heritable trait commonly used as a diagnostic marker for kidney function. GWAS in East-Asian populations identified a number of genetic loci related to serum urea but there is a paucity of data for European populations.

Subjects/methods: We performed a two-stage meta-analysis of GWASs on serum urea in 13,312 participants, with independent replication in 7379 participants of European ancestry.

Results: We identified six genome-wide significant SNPs in or near six loci, of which two were novel (POU2AF1 and ADAMTS9-AS2). Replication of East-Asian and Scottish data provided evidence for an additional eight loci. SNPs tag regions previously associated with anthropometric traits, serum magnesium, and urinary albumin-to-creatinine ratio, as well as expression quantitative trait loci for genes preferentially expressed in kidney and gastro-intestinal tissues.

Conclusions: Our findings provide insights in the genetic underpinnings of urea metabolism, with potential relevance to kidney function.

year of publication



  • American Journal of Nephrology


  • Thio, CHL
  • Reznichenko, A
  • van der Most, PJ
  • Kamali, Z
  • Vaez, A
  • Snieder, H
  • et al.

full publication

click here to view the full publication