uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function
Show others and affiliations
2013 (English)In: Journal of the American Society of Nephrology, ISSN 1046-6673, Vol. 24, no 12, 2105-2117 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2013. Vol. 24, no 12, 2105-2117 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-215930DOI: 10.1681/ASN.2012100983ISI: 000328817300021OAI: oai:DiVA.org:uu-215930DiVA: diva2:689083
Available from: 2014-01-20 Created: 2014-01-17 Last updated: 2014-01-20Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full text

Search in DiVA

By author/editor
Johansson, ÅsaKronenberg, FlorianGyllensten, Ulf
By organisation
GenomicsDepartment of Immunology, Genetics and Pathology
In the same journal
Journal of the American Society of Nephrology
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar

Altmetric score

Total: 289 hits
ReferencesLink to record
Permanent link

Direct link