Key result
A meta-analysis of genome-wide association studies in 20,691 participants of European ancestry identified 6 significant loci associated with serum urea, including 2 novel loci.
Why the study?
Serum urea is a heritable marker of kidney function with loci identified in East-Asian populations, but data for European populations were lacking.
Meta-Analysis (n=20,691)
Yes
This GWAS meta-analysis identified two novel genetic loci associated with serum urea levels in European populations, providing insights into the genetic underpinnings of urea metabolism.
Extends genetic architecture of serum urea; leaves open replication across ancestries and links to kidney outcomes.
BACKGROUND: Serum urea level is a heritable trait, commonly used as a diagnostic marker for kidney function. Genome-wide association studies (GWAS) in East-Asian populations identified a number of genetic loci related to serum urea, however there is a paucity of data for European populations. METHODS: We performed a two-stage meta-analysis of GWASs on serum urea in 13,312 participants, with independent replication in 7,379 participants of European ancestry. RESULTS: We identified 6 genome-wide significant single nucleotide polymorphisms (SNPs) in or near 6 loci, of which 2 were novel (POU2AF1 and ADAMTS9-AS2). Replication of East-Asian and Scottish data provided evidence for an additional 8 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 into the genetic underpinnings of urea metabolism, with potential relevance to kidney function.
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Thio et al. (2019) conducted a meta-analysis in Serum urea level (n=20,691). Genetic variants (SNPs) was evaluated on Genome-wide significant SNPs associated with serum urea. A meta-analysis of genome-wide association studies in 20,691 participants of European ancestry identified 6 significant loci associated with serum urea, including 2 novel loci.
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