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Study Report - GWAS of serum creatinine (HGVST500)

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Identifier

HGVST500

Study name

GWAS of serum creatinine

Total p-values imported

Phenotype(s) tested

Serum creatinine

Study design

Quantitative trait analysis with replication

Genotype platforms

Affymetrix, Illumina and Perlegen ~2.6 Million (imputed)

Abstract

Using genome-wide association, we identify common variants at 2p12-p13, 6q26, 17q23 and 19q13 associated with serum creatinine, a marker of kidney function (P = 10(-10) to 10(-15)). Of these, rs10206899 (near NAT8, 2p12-p13) and rs4805834 (near SLC7A9, 19q13) were also associated with chronic kidney disease (P = 5.0 x 10(-5) and P = 3.6 x 10(-4), respectively). Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease.

Submission information

Contributor	Date Submitted	Author?	Submitter?	Source?
NHGRI Catalog of Published Genome-Wide Association Studies	2010-05-14
HGVbaseG2P	2010-05-14
Chambers JC et al.	2010-05-14

Author communication

Corresponding author	Date of contact	Date of response	Type of response
Jaspal S Kooner	2011-03-17	--	--
Jaspal S Kooner	2012-01-18	--	--
John Chambers	2011-03-17	--	--
John Chambers	2012-01-18	--	--

Background

Not supplied

Objectives

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Key results

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Conclusions

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Reason for study size

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Study power

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Sources of bias

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Limitations

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Acknowledgements

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Related citations

Chambers JC, Zhang W, Lord GM et al. link

Genetic loci influencing kidney function and chronic kidney disease.
Nature genetics 2010;42(5):373-5

Hindorff LA, Sethupathy P, Junkins HA et al. link

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
Proceedings of the National Academy of Sciences U S A. 2009 May 27