Applications

GWAS of hematuria and other urinary dipstick measures

There has been limited scientific study of hematuria, a neglected sign of glomerular disease. We recently reported a genome-wide association study (GWAS) of hematuria using combinations of ICD codes in the white British subset of the UK Biobank (CJASN and podcast). We identified independent variants within COL4A4-COL4A3 and MHC, both of which have been implicated in Alport syndrome and IgA nephropathy. 

DeCODE has previously performed GWAS of urinary biomarker data from routine examinations, and identified multiple loci, that can be used for replication/extension: https://academic.oup.com/hmg/article/28/7/1199/5204138

5.2.    Research question 
(Please be specific regarding the research questions and keep in mind that there is a maximum of 2 publications per proposal.)
-    Can we identify additional loci associated with hematuria and other dipstick measures?
-    Can we identify HLA haplotypes associated with hematuria and other dipstick measures?

year of approval

2023

institute

  • UMCG - Department of Endocrinology

primary applicant

  • Wolffenbuttel, B.