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Am J Nephrol. 2019;49(3):193-202. doi: 10.1159/000496930. Epub 2019 Feb 26.

Genome-Wide Association Scan of Serum Urea in European Populations Identifies Two Novel Loci.

Author information

1
Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlandsc.h.l.thio@umcg.nl.
2
Department of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
3
Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
4
Department of Bioinformatics, Isfahan University of Medical Sciences, Isfahan, Iran.
5
The Netherlands Study of Depression and Anxiety (NESDA), GGZ inGeest, Amsterdam, The Netherlands.
6
Department of Psychiatry, VU University Medical Center, Amsterdam, The Netherlands.
7
Estonia Genome Center University of Tartu (EGCUT), Institute of Genomics, Tartu, Estonia.
8
TransplantLines, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
9
Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands.
10
Prevention of REnal and Vascular ENdstage Disease (PREVEND) Cohort Study, Groningen, The Netherlands.
11
Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
12
Lifelines Cohort Study and Biobank, Groningen, The Netherlands.

Abstract

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.

KEYWORDS:

Genome-wide association studies; Kidney function; Serum urea

PMID:
30808845
DOI:
10.1159/000496930
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