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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2010

Open Access 01-12-2010 | Research article

A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2with serum creatinine level

Authors: Cristian Pattaro, Alessandro De Grandi, Veronique Vitart, Caroline Hayward, Andre Franke, Yurii S Aulchenko, Asa Johansson, Sarah H Wild, Scott A Melville, Aaron Isaacs, Ozren Polasek, David Ellinghaus, Ivana Kolcic, Ute Nöthlings, Lina Zgaga, Tatijana Zemunik, Carsten Gnewuch, Stefan Schreiber, Susan Campbell, Nick Hastie, Mladen Boban, Thomas Meitinger, Ben A Oostra, Peter Riegler, Cosetta Minelli, Alan F Wright, Harry Campbell, Cornelia M van Duijn, Ulf Gyllensten, James F Wilson, Michael Krawczak, Igor Rudan, Peter P Pramstaller, the EUROSPAN consortium

Published in: BMC Medical Genetics | Issue 1/2010

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Abstract

Background

Serum creatinine (SCR) is the most important biomarker for a quick and non-invasive assessment of kidney function in population-based surveys. A substantial proportion of the inter-individual variability in SCR level is explicable by genetic factors.

Methods

We performed a meta-analysis of genome-wide association studies of SCR undertaken in five population isolates ('discovery cohorts'), all of which are part of the European Special Population Network (EUROSPAN) project. Genes showing the strongest evidence for an association with SCR (candidate loci) were replicated in two additional population-based samples ('replication cohorts').

Results

After the discovery meta-analysis, 29 loci were selected for replication. Association between SCR level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12, were successfully replicated in the replication cohorts (p value = 1.0 × 10-6 and 1.7 × 10-4, respectively). Evidence of association was also found for polymorphisms in a locus including the gamma-aminobutyric acid receptor rho-2 (GABRR2) gene and the ubiquitin-conjugating enzyme E2-J1 (UBE2J1) gene (replication p value = 3.6 × 10-3). Previously reported findings, associating glomerular filtration rate with SNPs in the uromodulin (UMOD) gene and in the schroom family member 3 (SCHROOM3) gene were also replicated.

Conclusions

While confirming earlier results, our study provides new insights in the understanding of the genetic basis of serum creatinine regulatory processes. In particular, the association with the genes SYT1 and GABRR2 corroborate previous findings that highlighted a possible role of the neurotransmitters GABAA receptors in the regulation of the glomerular basement membrane and a possible interaction between GABAAreceptors and synaptotagmin-I at the podocyte level.
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Metadata
Title
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2with serum creatinine level
Authors
Cristian Pattaro
Alessandro De Grandi
Veronique Vitart
Caroline Hayward
Andre Franke
Yurii S Aulchenko
Asa Johansson
Sarah H Wild
Scott A Melville
Aaron Isaacs
Ozren Polasek
David Ellinghaus
Ivana Kolcic
Ute Nöthlings
Lina Zgaga
Tatijana Zemunik
Carsten Gnewuch
Stefan Schreiber
Susan Campbell
Nick Hastie
Mladen Boban
Thomas Meitinger
Ben A Oostra
Peter Riegler
Cosetta Minelli
Alan F Wright
Harry Campbell
Cornelia M van Duijn
Ulf Gyllensten
James F Wilson
Michael Krawczak
Igor Rudan
Peter P Pramstaller
the EUROSPAN consortium
Publication date
01-12-2010
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2010
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-11-41

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