Extended Data Table 3.
Characteristics of studied participants and traits in the UK Biobank exome cohort
| Participants, n | 454162 | ||
| Female, n (%) | 246303 (54.23) | ||
| European ancestry, n (%) | 428872 (94.4) | ||
| Age at enrolment, mean (SD) | 57.04 (8.09) | ||
| Age at last follow-up, mean (SD) | 68.00 (8.06) | ||
| Disease endpoint | Cases, n (%) | Controls, n (%) | |
| Dilated cardiomyopathy (DCM) | 924 (0.21) | 438722 (99.79) | |
| Hypertrophic cardiomyopathy (HCM) | 538 (0.12) | 453624 (99.88) | |
| Atrial fibrillation or flutter (AF) | 29149 (6.42) | 425013 (93.58) | |
| Supraventricular tachycardia (SVT) | 4836 (1.06) | 449326 (98.94) | |
| Ventricular tachycardia (VT) | 2297 (0.51) | 451865 (99.49) | |
| Heart failure (HF) | 13791 (3.04) | 440268 (96.96) | |
| Quantitative MRI endophenotype | Samples with data, n (%) | Mean (SD) | Median [Q1; Q3] |
| LVEF | 38066 (8.38) | 0.602 (0.061) | 0.604 [0.565; 0.642] |
| LVEDV (BSA indexed) | 36818 (8.11) | 75.651 (13.487) | 74.512 [66.415; 83.632] |
| LVESV (BSA indexed) | 36818 (8.11) | 30.354 (8.181) | 29.441 [24.803; 34.803] |
| LVSV (BSA indexed) | 36818 (8.11) | 45.297 (8.097) | 44.869 [39.889; 50.234] |
| RVEF | 36078 (7.94) | 0.594 (0.064) | 0.594 [0.553; 0.635] |
| RVEDV (BSA indexed) | 34893 (7.68) | 70.08 (13.705) | 68.614 [60.409; 78.295] |
| RVESV (BSA indexed) | 34893 (7.68) | 28.672 (7.954) | 27.723 [23.012; 33.445] |
| RVSV (BSA indexed) | 34893 (7.68) | 41.408 (8.381) | 40.705 [35.7; 46.262] |
| LVMmax (BSA indexed) | 37044 (8.16) | 54.849 (10.124) | 53.728 [47.467; 61.114] |
| FWmax (BSA indexed) | 36811 (8.11) | 39.586 (7.484) | 38.808 [34.184; 44.148] |
| IVSmax (BSA indexed) | 37075 (8.16) | 16.68 (3.255) | 16.318 [14.327; 18.669] |
Baseline characteristics are provided for the entire cohort, totalling 454,162 individuals. Disease case and control counts are provided for the studied diseases; diseases were analysed in the entire cohort. We also studied certain MRI phenotypes in samples where data were available (~8%), with distributions provided as mean (SD) and median (quartiles). When logical, MRI traits were indexed to BSA. Of note, all quantitative traits were inverse-rank-normalized before genetic analyses.
BSA, body surface area; FWmax, maximum free wall mass; IVSmax, maximum interventricular septal mass; LVEDV, left ventricular end diastolic volume; LVEF, left ventricular ejection fraction; LVESV, left ventricular end systolic volume; LVMmax, left ventricular mass; LVSV, left ventricular stroke volume; MRI, magnetic resonance imaging; RVEDV, right ventricular end diastolic volume; RVEF, right ventricular ejection fraction; RVESV, right ventricular end systolic volume; RVSV, right ventricular stroke volume; SD, standard deviation.