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Caroline Fox, M.D., M.P.H.


Datasets


CKDGEN Meta-Analysis Data

These files contain the summary meta-analysis data from the CKDGen consortium for the following 5 traits:

  1. eGFRcrea (n=67,093)
  2. eGFRcys (n=20,957)
  3. CKD (n=62,237)
  4. UACR (n=31,580)
  5. MA (n=30482)

(These are .csv zipped files)


Within each file, the data are presented as follows:

  • rsID, allele1, allele2, freqA1, direction, pval
  • Allele1=the coded allele
  • Allele2=noncoded allele
  • FreqA1 is the frequency of allele1 from the Hapmap CEU sample
  • Direction refers to the direction of effect for allele1. Can be +/-/0.
  • The p-value is the double GC corrected p-value.

The preferred citations are as follows:

  • For eGFRcrea, eGFRcys, and CKD: Kottgen A, Pattaro C, Boger CA et al. New loci associated with kidney function and chronic kidney disease. Nat Genet 2010 May;42(5):376-84.
  • For UACR and MA: Boger CA, Chen MH, Tin A et al. CUBN Is a Gene Locus for Albuminuria. J Am Soc Nephrol 2011 Mar;22(3):555-70.

 

Mendelian Kidney Curated Files

Listing of Mendelian disorders with known renal phenotypes and meta-analysis results of associations between common variants in Mendelian renal dysfunction genes with estimated glomerular filtration rate and chronic kidney disease

This downloadable file has six tabs corresponding to the following table:

  • Table 1: List of Mendelian disorders with primary renal developmental or glomerular related dysfunction
  • Table 2: List of Mendelian disorders with primary renal tubular dysfunction
  • Table 3: List of Mendelian disorders with secondary cause for renal injury
  • Table 4: eGFR meta-analysis results for top associated SNP within each Mendelian kidney disease gene
  • Table 5: CKD meta-analysis results for top eGFR associated SNP within each Mendelian kidney disease  gene
  • Table 6: Complete eGFR meta-analysis results of all SNPs in the 258 Mendelian kidney disease genes

Reference:

Afshin Parsa, Christian Fuchsberger, Anna Köttgen, et al. Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function and CKD. J Am Soc Nephrol, 2013 Sep 12. [Epub ahead of print] PubMed PMID: 24029420.

Link to paper: http://jasn.asnjournals.org/content/early/2013/09/11/ASN.2012100983.long


Details regarding the case numbers and samples can be found within these published documents. If you have any questions, please contact Dr. Caroline Fox at foxca@nhlbi.nih.gov.

Last Updated: November 04, 2013