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27 février 2023
- handle: 10670/1.3ofjf6
- doi: 10.2215/CJN.13711021
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Sarah A. Gagliano Taliun et al., « GWAS of hematuria », Papyrus : le dépôt institutionnel de l'Université de Montréal, ID : 10.2215/CJN.13711021
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Background and objectives Glomerular hematuria has varied causes but can have a genetic basis, including Alport syndrome and IgA nephropathy. Design, setting, participants, & measurements We used summary statistics to identify genetic variants associated with hematuria in White British UK Biobank participants. Individuals with glomerular hematuria were enriched by excluding participants with genitourinary conditions. A strongly associated locus on chromosome 2 (COL4A4-COL4A3) was identified. The region was reimputed using the Trans-Omics for Precision Medicine Program followed by sequential rounds of regional conditional analysis, conditioning on previous genetic signals. Similarly, we applied conditional analysis to identify independent variants in the MHC region on chromosome 6 using imputed HLA haplotypes. Results In total, 16,866 hematuria cases and 391,420 controls were included. Cases had higher urinary albumin-creatinine compared with controls (women: 13.01 mg/g [8.05–21.33] versus 12.12 mg/g [7.61–19.29]; P