Table 1.
Demographic characteristics and clinical phenotypes captured by phecodes in Million Veteran Program participants
| Characteristics | Non-Hispanic Whites na = 464,961 | Non-Hispanic Blacks na = 123,120 | Hispanics na = 52,183 |
|---|---|---|---|
| Demographics | |||
| Age, mean (SD) | 64 (14) | 58 (12) | 55 (16) |
| Female, n (%) | 34,438 (7.4) | 16,993 (13.8) | 5142 (9.9) |
| Years of follow-up in the EHR, median (25th, 75th) | 13.2 (8.0, 17.7) | 15.0 (9.3, 18.9) | 12.3 (6.5, 17.1) |
| General comorbidities | % | Cases | Allb | % | Cases | Allb | % | Cases | Allb |
|---|---|---|---|---|---|---|---|---|---|
| Hypertension | 74.7 | 303,313 | 406,067 | 80.1 | 87,895 | 109,752 | 62.8 | 28,089 | 44,710 |
| Type 2 diabetes | 35.1 | 144,376 | 411,196 | 43.5 | 47,407 | 109,088 | 39.2 | 17,827 | 45,496 |
| Gout | 9.3 | 38,796 | 417,943 | 11.9 | 13,193 | 111,141 | 6.0 | 2789 | 46,404 |
| Proteinuria | 2.2 | 9030 | 420,081 | 3.9 | 4357 | 110,957 | 3.4 | 1544 | 46,086 |
| Kidney disease | |||||||||
| Hypertensive heart and/or renal disease | 13.3 | 53,251 | 399,633 | 18.6 | 19,685 | 106,142 | 10.3 | 4625 | 44,866 |
| Hypertensive CKD | 7.4 | 30,565 | 411,933 | 11.6 | 12,633 | 109,157 | 6.2 | 2842 | 45,956 |
| Type 2 diabetes with renal manifestations | 5.2 | 21,706 | 417,549 | 7.6 | 8393 | 110,764 | 6.1 | 2817 | 45,597 |
| CKD | 13.8 | 56,757 | 411,325 | 17.8 | 19,540 | 109,540 | 10.4 | 4795 | 45,904 |
| CKD, stage I or II | 2.0 | 8236 | 419,746 | 4.1 | 4583 | 110,618 | 1.8 | 829 | 46,453 |
| CKD, stage III | 8.9 | 37,099 | 416,227 | 10.7 | 11,929 | 111,092 | 6.7 | 3083 | 46,295 |
| CKD, stage IV | 2.1 | 8918 | 425,070 | 3.5 | 3953 | 113,406 | 2.4 | 1133 | 47,003 |
| End-stage kidney disease | 1.2 | 5334 | 426,352 | 3.4 | 3873 | 113,748 | 2.1 | 1011 | 47,056 |
| Complications of CKD | |||||||||
| Anemia in CKD | 1.7 | 7330 | 423,505 | 3.9 | 4347 | 112,692 | 2.3 | 1056 | 46,817 |
| Anemia of chronic disease | 3.3 | 13,675 | 416,793 | 6.0 | 6641 | 110,416 | 3.4 | 1593 | 46,254 |
| Other anemias | 19.6 | 76,540 | 390,181 | 28.9 | 29,742 | 102,918 | 16.4 | 7150 | 43,696 |
| Hyperpotassemia | 3.8 | 15,510 | 411,143 | 4.1 | 4517 | 110,276 | 3.4 | 1567 | 45,792 |
| Secondary hyperparathyroidism (renal) | 1.1 | 4716 | 426,008 | 2.5 | 2860 | 113,514 | 1.5 | 686 | 47,045 |
| UTI complications | |||||||||
| UTI | 10.7 | 42,133 | 394,057 | 13.6 | 13,886 | 102,047 | 10.4 | 4488 | 43,273 |
| Pyelonephritis | 0.7 | 2816 | 424,496 | 0.7 | 797 | 113,362 | 0.8 | 364 | 46,780 |
| E. coli infection | 0.5 | 2217 | 422,520 | 0.6 | 711 | 112,696 | 0.5 | 231 | 46,584 |
| Urolithiasis-related phenotypes | |||||||||
| Hematuria | 9.0 | 36,418 | 404,436 | 10.3 | 11,005 | 106,978 | 8.4 | 3746 | 44,558 |
| Gross hematuria | 3.1 | 12,904 | 418,551 | 3.5 | 3922 | 111,742 | 2.5 | 1175 | 46,339 |
| Urinary calculus | 8.8 | 36,238 | 412,276 | 4.8 | 5323 | 111,169 | 7.2 | 3289 | 45,729 |
| Calculus of kidney | 7.3 | 30,249 | 413,504 | 4.0 | 4435 | 111,594 | 5.9 | 2713 | 45,798 |
| Calculus of ureter | 2.1 | 8817 | 422,749 | 1.1 | 1201 | 113,737 | 1.7 | 775 | 46,716 |
| Calculus of lower urinary tract | 0.6 | 2784 | 425,792 | 0.4 | 394 | 114,151 | 0.4 | 209 | 47,081 |
| Hydronephrosis | 1.5 | 6559 | 422,000 | 1.2 | 1354 | 113,350 | 1.1 | 530 | 46,632 |
| Stricture/obstruction of ureter | 0.6 | 2478 | 427,241 | 0.5 | 534 | 113,677 | 0.5 | 223 | 46,860 |
CKD, chronic kidney disease; E. coli, Escherichia coli; EHR, electronic health record; PheWAS, phenome-wide association study; UTI, urinary tract infection.
a
Represents the group-specific sample size with genotype and phenotype data.
b
Represents the total number of cases + controls for each phenotype after the PheWAS algorithm but excluded patients not meeting the phecode-specific case or control definition.