Table 1. Clinical characteristics and genetic ancestry of the discovery cohort.
| PUV (n=132) | Controls (n=23,727) | ||
|---|---|---|---|
| Median age (range) | 13 (2–66) | ||
| Males (%) | 132 (100) | 10,425 (43.9) | |
| PCA determined ancestry | |||
| EUR (%) | 89 (67.4) | 19,418 (81.8) | |
| SAS (%) | 18 (13.6) | 2847 (12.0) | |
| AFR (%) | 11 (8.3) | 449 (1.9) | |
| AMR (%) | 0 (0) | 7 (0.03) | |
| Admixed (%) | 14 (10.6) | 1006 (4.2) | |
| Additional renal/urinary phenotypes | |||
| Hydronephrosis (%) | 56 (42.4) | ||
| Bladder abnormality (%) | 32 (24.2) | ||
| Hydroureter (%) | 30 (22.7) | ||
| VUR (%) | 27 (20.5) | ||
| Renal dysplasia (%) | 16 (12.1) | ||
| Hypertension (%) | 11 (8.3) | ||
| Renal agenesis (%) | 8 (6.1) | ||
| Recurrent UTIs (%) | 5 (3.8) | ||
| Renal hypoplasia (%) | 4 (3.0) | ||
| Renal duplication (%) | 2 (1.5) | ||
| Extrarenal manifestations (%) | 35 (26.5) | ||
| Cardiac anomaly (%) | 4 (3.0) | ||
| Neurodevelopmental disorder (%) | 7 (5.3) | ||
| Family history (%) | 5 (3.8) | ||
| End-stage renal disease (%) | 23 (17.4) | ||
| Median age ESRD (range) | 14 (0–39) |
PUV, posterior urethral valves; PCA, principal component analysis; EUR, European; SAS, South Asian; AFR, African; AMR, Latino/Admixed American; VUR, vesico-ureteral reflux; UTI, urinary tract infection; ESRD, end-stage renal disease.