Extended Data Table 3 Characteristics of studied participants and traits in the UK Biobank exome cohort

From: Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies

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]

  1. 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.
  2. 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.
Back to article page