Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/120041
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Type: Journal article
Title: Common variants in mendelian kidney disease genes and their association with renal function
Author: Parsa, A.
Fuchsberger, C.
Köttgen, A.
O'Seaghdha, C.
Pattaro, C.
De Andrade, M.
Chasman, D.
Teumer, A.
Endlich, K.
Olden, M.
Chen, M.
Tin, A.
Kim, Y.
Taliun, D.
Li, M.
Feitosa, M.
Gorski, M.
Yang, Q.
Hundertmark, C.
Foster, M.
et al.
Citation: Journal of the American Society of Nephrology, 2013; 24(12):2105-2117
Publisher: American Society of Nephrology
Issue Date: 2013
ISSN: 1046-6673
1533-3450
Statement of
Responsibility: 
Afshin Parsa, Christian Fuchsberger, Anna Köttgen, Conall M. O’Seaghdha, Cristian Pattaro ... Lyle J. Palmer ... at al.
Abstract: Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research.
Keywords: Kidney; Humans; Gene Frequency; Phenotype; Polymorphism, Single Nucleotide; Databases, Genetic; European Continental Ancestry Group; Renal Insufficiency, Chronic; Genetic Variation; Genome-Wide Association Study; Mendelian Randomization Analysis
Rights: © 2013 by the American Society of Nephrology
RMID: 0030119938
DOI: 10.1681/ASN.2012100983
Appears in Collections:Medicine publications

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