Table 1.
Clinical and demographic characteristics of patients, stratified by Mendelian kidney disease status in the overall cohort
| Category | Totala | Mendelian Diseaseb | Carriersb | Negativeb |
|---|---|---|---|---|
| N | 15181 (100) | 3119 (20.5) | 5049 (33.3) | 7013 (46.2) |
| Gender & Age | ||||
| Female | 7606 (50.1) | 1723 (22.7) | 2454 (32.3) | 3429 (45.1) |
| Male | 7575 (49.9) | 1396 (18.4) | 2595 (34.3) | 3584 (47.3) |
| Median age yr (IQR) | 47 (30–62) | 40 (23–56) | 49 (32–64) | 48 (31–63) |
| Self-reported race & ethnicity | ||||
| African American | 2960 (19.2) | 377 (12.7) | 1017 (34.4) | 1566 (52.9) |
| East Asian | 230 (1.5) | 62 (27) | 64 (27.8) | 104 (45.2) |
| European American | 5718 (37.1) | 1303 (22.8) | 2076 (36.3) | 2339 (40.9) |
| Hispanic | 1989 (12.9) | 437 (22) | 502 (25.2) | 1050 (52.8) |
| Mediterranean | 93 (0.6) | 16 (17.2) | 33 (35.5) | 44 (47.3) |
| Other | 570 (3.7) | 129 (22.6) | 185 (32.5) | 256 (44.9) |
| South-East Asian | 330 (2.1) | 76 (23) | 90 (27.3) | 164 (49.7) |
| Unknown | 3542 (23) | 775 (21.9) | 1171 (33.1) | 1596 (45.1) |
| Genetic cluster | ||||
| Admixed American | 2313 (15.2) | 501 (21.7) | 598 (25.9) | 1214 (52.5) |
| African | 3678 (24.2) | 502 (13.6) | 1247 (33.9) | 1929 (52.4) |
| Central-South Asian | 368 (2.4) | 79 (21.5) | 107 (29.1) | 182 (49.5) |
| East Asian | 769 (5.1) | 175 (22.8) | 208 (27) | 386 (50.2) |
| European | 7458 (49.1) | 1777 (23.8) | 2726 (36.6) | 2955 (39.6) |
| Unclustered samplesc | 595 (3.9) | 85 (14.3) | 163 (27.4) | 347 (58.3) |
| Clinical diagnosisd | ||||
| Chronic kidney disease | 8267 (49.1) | 1620 (19.6) | 2824 (34.2) | 3823 (46.2) |
| Cystic kidney disease | 1466 (8.7) | 658 (44.9) | 398 (27.1) | 410 (28) |
| End-stage kidney disease | 1616 (9.6) | 222 (13.7) | 524 (32.4) | 870 (53.8) |
| Hematuria | 584 (3.5) | 169 (28.9) | 165 (28.3) | 250 (42.8) |
| Hypertension | 467 (2.8) | 49 (10.5) | 147 (31.5) | 271 (58) |
| Kidney transplant | 432 (2.6) | 73 (16.9) | 138 (31.9) | 221 (51.2) |
| Proteinuria/nephrotic syndrome | 1024 (6.1) | 167 (16.3) | 354 (34.6) | 503 (49.1) |
| Others | 1554 (9.2) | 305 (19.6) | 518 (33.3) | 731 (47) |
| None available | 1431 (8.5) | 269 (18.8) | 506 (35.4) | 656 (45.8) |
IQR, interquartile range.
a
column-based proportions.
b
row-based proportions.
c
No. of Samples excluded during PCA filtering steps due to missing the minimum number of single-nucleotide variants after quality control.
d
Clinical diagnoses are based on ICD codes, summarized into the categories presented. The total count exceeds the number of unique patients due to the presence of multiple ICD codes in some patients.