Table 4.
Association of the rs4293393 (A/G) UMOD variant with key clinical phenotypes across sex groups in non-Hispanic White patients in the MVP
| Females | |||||
|---|---|---|---|---|---|
| Clinical phenotypes | PheWAS code description | Cases | Controls | OR (95% CI) per copy of the A allele | P value |
| CKD | CKD | 1685 | 28,924 | 1.30 (1.18–1.44) | 2.87 × 10−07,a |
| CKD, stage III | 1154 | 29,725 | 1.25 (1.10–1.45) | 2.39 × 10−04 | |
| CKD, stage IV | 263 | 31,007 | 1.62 (1.24–2.11) | 4.00 × 10−04 | |
| Hypertensive complications | Hypertensive CKD | 774 | 30,108 | 1.28 (1.11–1.49) | 7.50 × 10−04 |
| Hypertensive heart or renal disease | 1567 | 28,773 | 1.17 (1.06–1.30) | 2.20 × 10−03 | |
| UTIs | UTI | 7840 | 18,560 | 0.98 (0.98–1.05) | 4.03 × 10−01 |
| Cystitis | 977 | 28,707 | 0.87 (0.78–0.98) | 2.01 × 10−02 | |
| Acute cystitis | 245 | 30,151 | 0.84 (0.68–1.05) | 1.31 × 10−01 | |
| Pyelonephritis | 584 | 30,061 | 0.92 (0.79–1.07) | 2.62 × 10−01 | |
| Urinary calculi | Urinary calculus | 1990 | 28,328 | 0.86 (0.79–0.93) | 1.73 × 10−04 |
| Calculus of the kidney | 1710 | 28,751 | 0.84 (0.77–0.91) | 4.98 × 10−05,a | |
| Calculus of the ureter | 518 | 30,514 | 0.77 (0.66–0.89) | 5.37 × 10−04 | |
| Males | |||||
|---|---|---|---|---|---|
| Clinical phenotypes | PheWAS code description | Cases | Controls | OR (95% CI) per copy of the A allele | P value |
| CKD | CKD | 55,072 | 325,644 | 1.22 (1.20–1.24) | 2.09 × 10−105,a |
| CKD, stage III | 35,945 | 349,403 | 1.23 (1.21–1.26) | 2.82 × 10−83,a | |
| CKD, stage IV | 8655 | 385,145 | 1.23 (1.18–1.28) | 1.54 × 10−21,a | |
| Hypertension complications | Hypertensive chronic kidney disease | 29,791 | 351,260 | 1.19 (1.17–1.22) | 4.31 × 10−51,a |
| Hypertensive heart or renal disease | 51,684 | 317,609 | 1.10 (1.08–1.12) | 3.68 × 10−27,a | |
| UTIs | UTI | 34,293 | 333,364 | 0.93 (0.92–0.95) | 4.35 × 10−11,a |
| Cystitis | 3638 | 385,756 | 0.97 (0.92–1.03) | 3.44 × 10−01 | |
| Acute cystitis | 1096 | 391,828 | 0.92 (0.83–1.02) | 1.26 × 10−01 | |
| Pyelonephritis | 2232 | 391,619 | 0.91 (0.84–0.98) | 9.18 × 10−03 | |
| Urinary calculi | Urinary calculus | 34,248 | 347,710 | 0.85 (0.83–0.86) | 1.45 × 10−61,a |
| Calculus of the kidney | 28,539 | 354,504 | 0.83 (0.81–0.85) | 4.20 × 10−65,a | |
| Calculus of the ureter | 8299 | 383,418 | 0.81 (0.78–0.84) | 5.22 × 10−27,a | |
CKD, chronic kidney disease; MVP, Million Veteran Program; OR, odds ratio; PheWAS, phenome-wide association study; UTI, urinary tract infection.
a
Represents phenotypes reaching PheWAS significance among non-Hispanic White female (5.86 × 10−05) and male patients (3.47 × 10−05) in the MVP.