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



Thio CHL1 ; Reznichenko A2 ; Van Der Most PJ4 ; Kamali Z3 ; Vaez A1, 3 ; Smit JH5, 6 ; Penninx BWJH5, 6 ; Haller T7 ; Mihailov E7 ; Metspalu A7 ; Damman J8, 10 ; De Borst MH2, 8 ; Van Der Harst P9, 11 ; Verweij N9, 11 Show All Authors
Authors
  1. Thio CHL1
  2. Reznichenko A2
  3. Van Der Most PJ4
  4. Kamali Z3
  5. Vaez A1, 3
  6. Smit JH5, 6
  7. Penninx BWJH5, 6
  8. Haller T7
  9. Mihailov E7
  10. Metspalu A7
  11. Damman J8, 10
  12. De Borst MH2, 8
  13. Van Der Harst P9, 11
  14. Verweij N9, 11
  15. Navis GJ2, 9
  16. Gansevoort RT2, 9
  17. Nolte IM1
  18. Snieder H1
Show Affiliations
Authors Affiliations
  1. 1. Department of Epidemiology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, PO Box 30.001, Groningen, NL-9700 RB, Netherlands
  2. 2. Department of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
  3. 3. Department of Bioinformatics, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4. Lifelines Cohort Study and Biobank, Groningen, Netherlands
  5. 5. Netherlands Study of Depression and Anxiety (NESDA), GGZ in Geest, Amsterdam, Netherlands
  6. 6. Department of Psychiatry, VU University Medical Center, Amsterdam, Netherlands
  7. 7. Estonia Genome Center University of Tartu (EGCUT), Institute of Genomics, Tartu, Estonia
  8. 8. TransplantLines, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
  9. 9. Prevention of REnal and Vascular ENdstage Disease (PREVEND) Cohort Study, Groningen, Netherlands
  10. 10. Department of Pathology, Erasmus Medical Center, Rotterdam, Netherlands
  11. 11. Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands

Source: American Journal of Nephrology Published:2019


Abstract

Serum urea level is a heritable trait, commonly used as a diagnostic marker for kidney function. Genomewide 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 poplations. 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 albu- min-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. © 2019 The Author(s) Published by S. Karger AG, Basel.
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