Table 1 Baseline cohort characteristics by endophenotype in the UK Biobank

From: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Characteristic

LDL-C (mg/dL)

QTc (ms)

HbA1c (%)

Participants with a measurable endophenotype, n

189,652

33,520

189,741

Median endophenotype value (Q1–Q3)

136 (114–159)

411 (396–426)

5.4 (5.1–5.6)

Male, n (%)

85,197 (44.9)

16,582 (49.5)

85,210 (44.9)

European ancestry, n (%)

165,783 (87.4)

28,249 (84.3)

166,335 (87.7)

Mean age, years (SD)

57.0 (8.1)

52.6 (5.7)

57.0 (8.1)

Myocardial infarction, n (%)

2995 (1.6)

483 (1.4)

-

Statin usage, n (%)

31,909 (16.8)

-

-

Median high-density lipoprotein, mg/dL (Q1–Q3)

56.0 (46.3–64.0)

-

-

Heart failure, n (%)

-

74 (0.2)

-

Beta blocker usage, n (%)

-

1701 (5.1)

-

Calcium channel blocker usage, n (%)

-

2455 (7.3)

-

Type 2 diabetes medication usage, n (%)

-

-

7090 (3.7)

Mean corpuscular volume, femtoliters (SD)

-

-

91.2 (4.5)

  1. NB: only select relevant characteristics for the given monogenic disease of interest are displayed.
  2. This table includes median imputed values for select clinical covariates.