| Autor: |
Ryan S. Hsi, Siwei Zhang, Jefferson L. Triozzi, Adriana M. Hung, Yaomin Xu, Cosmin A. Bejan |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
European Urology Open Science, Vol 67, Iss , Pp 38-44 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2666-1683 |
| DOI: |
10.1016/j.euros.2024.07.109 |
| Popis: |
Background and objective: Previous studies have reported a strong genetic contribution to kidney stone risk. This study aims to identify genetic associations of kidney stone disease within a large-scale electronic health record system. Methods: We performed genome-wide association studies (GWASs) for nephrolithiasis from genotyped samples of 5571 cases and 83 692 controls. This analysis included a primary GWAS focused on nephrolithiasis and subsequent subgroup GWASs stratified by stone composition types. For significant risk variants, we performed association analyses with stone composition and first-time 24-h urine parameters. To assess disease severity, we investigated the associations with age at first stone diagnosis, age at first stone-related procedure, and time between first and second stone-related procedures. Key findings and limitations: The primary GWAS analysis identified ten significant loci, all located on chromosome 16 within coding regions of the UMOD gene. The strongest signal was rs28544423 (odds ratio 1.17, 95% confidence interval 1.11–1.23, p = 2.7 × 10–9). In subgroup GWASs stratified by six kidney stone composition subtypes, 19 significant loci were identified including two loci in coding regions (brushite; NXPH1, rs79970906 and rs4725104). The UMOD single nucleotide polymorphism rs28544423 was associated with differences in 24-h excretion of urinary analytes, and the minor allele was positively associated with calcium oxalate dihydrate stone composition (p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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