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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

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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