Table 1: M1, M2, and M3 variant carriers and their characteristics in the UKBB and AoU datasets.
The counts include only individuals with a valid phenotype (case/control) label that was included in the analyses. Note that the non-carrier group is common to all three variant models and excludes any M1, M2, and M3 variant carriers.
| Cohorts | N Total | N Cases (%) | N Controls (%) | Female | Diabetes | Mean Age in Years (Range) |
|---|---|---|---|---|---|---|
| UK Biobank | 277,165 | 10,123 (3.6%) | 267,042 (96.4%) | 54% | 6% | 56.5 (40–69) |
|
| ||||||
| ADPKD M1 Carriers | 115 | 36 (31.3%) | 79 (68.7%) | 60% | 11% | 54.6 |
| ADPKD M2 Carriers | 125 | 39 (31.2%) | 86 (68.8%) | 62% | 11% | 53.7 |
| ADPKD M3 Carriers | 256 | 45 (17.5%) | 211 (82.5%) | 56% | 7% | 54.4 |
| ADPKD Non-carriers | 264,158 | 9,565 (3.6%) | 252,870 (96.4%) | 55% | 6% | 54.6 |
|
| ||||||
| COL4-AN M1 Carriers | 1,214 | 62 (5.1%) | 1,152 (94.9%) | 55% | 7% | 54.9 |
| COL4-AN M2 Carriers | 1,350 | 65 (4.8%) | 1,285 (95.2%) | 55% | 7% | 54.5 |
| COL4-AN M3 Carriers | 1,830 | 100 (5.4%) | 1,730 (94.6%) | 57% | 7% | 54.5 |
| COL4-AN Non-carriers | 264,239 | 9,646 (3.6%) | 254,593 (96.4%) | 54% | 6% | 56.5 |
|
| ||||||
| All of Us | 34,603 | 11,830 (3.41%) | 22,773 (96.59%) | 60% | 11% | 54.9 (18–89) |
|
| ||||||
| ADPKD M1 Carriers | 7 | 5 (71.4%) | 2 (28.6%) | 71% | 14% | 60.5 |
| ADPKD M2 Carriers | 14 | 5 (35.7%) | 9 (64.3%) | 64% | 14% | 59.6 |
| ADPKD M3 Carriers | 11 | 7 (63.3%) | 4 (36.7%) | 73% | 27% | 64.7 |
| ADPKD Non-carriers | 34,588 | 11,820 (3.4%) | 22,768 (96.6%) | 60% | 11% | 54.1 |
|
| ||||||
| COL4-AN M1 Carriers | 78 | 37 (47.4) | 41 (52.6%) | 58% | 23% | 56.0 |
| COL4-AN M2 Carriers | 106 | 47 (44.3%) | 59 (55.7%) | 65% | 21% | 54.5 |
| COL4-AN M3 Carriers | 226 | 72 (31.8%) | 154 (68.2%) | 65% | 20% | 54.4 |
| COL4-AN Non-carriers | 34,539 | 11,800 (3.4%) | 22,739 (96.6%) | 60% | 11% | 54.9 |