TABLE 3.
Differences between participants with (FH+) and without (FH-) rare causal variants in LDLR, APOB, and PCSK9.
| FH- (n = 214) | FH+ (n = 15) | P value | |
|---|---|---|---|
| Sex | 112 W, 102 M | 6 W, 9 M | 0.51 |
| Age at consent (years), [Mean, (±SD)] | 46 (±10) | 41 (±11) | 0.08 |
| Plasma lipids | |||
| Total Cholesterol (mmol/L), [Mean, (±SD)] | 6.2 (±1.1) | 7.2 (±1.8) | 0.0021 |
| LDL cholesterol (mmol/L), [Mean, (±SD)] | 4.7 (±1.0) | 5.7 (±1.5) | 0.00037 |
| HDL cholesterol (mmol/L), [Mean, (±SD)] | 1.3 (±0.3) | 1.2 (±0.3) | 0.28 |
| Triglycerides (mmol/L), [Mean, (±SD)] | 2.0 (±0.9) | 1.7 (±0.7) | 0.18 |
| Corrected LDL cholesterol (mmol/L), [Mean, (±SD)] | 9.8 (±2.7) | 13.9 (±4.5) | 0.00000021 |
| Lipid lowering drugs$ [n, (%)] | 204 (95%) | 15 (100%) | NA |
| Anthropometric data | |||
| BMI (kg/m2), [Mean, (±SD)] | 31 (±6) | 30 (±4) | 0.46 |
| BP Systolic (mmHg), [Mean, (±SD)] | 125 (±17) | 120 (±13) | 0.23 |
| BP Diastolic (mmHg), [Mean, (±SD)] | 74 (±10) | 72 (±7) | 0.48 |
| Glucose (mmol/L), [Mean, (±SD)] | 8.4 (±4.2) | 7.2 (±4.1) | 0.29 |
| HbA1c (%), [Mean, (±SD)] | 7.2 (±2.1) | 6.6 (±2.0) | 0.36 |
| Diabetes repartition | |||
| Non diabetes [n, (%)] | 74 (35%) | 7 (47%) | 0.34 |
| Pre-diabetes [n, (%)] | 45 (21%) | 3 (20%) | 0.92 |
| Type 2 Diabetes Mellitus [n, (%)] | 91 (42%) | 5 (33%) | 0.49 |
| Type 1 Diabetes [n, (%)] | 4 (2%) | 0 (0%) | NA |
Legend and abbreviations: FH, familial hypercholesterolemia; FH- non genetically defined FH, FH+, genetically defined FH; SD, standard deviation; BMI, body mass index; LDL-c, low-density lipoprotein cholesterol; HDL, high density lipoprotein cholesterol; $: lipid-lowering medication includes atorvastatin, rosuvastatin or simvastatin and/or Ezetimibe. Correction factors can be found in Supplementary Table S1. LDL-c plasma levels were calculated using the Friedewald’s formula (Friedewald et al., 1972). NA, non applicable. T-test was used to compare the lipid parameters between FH mutation carriers and non-carriers and Chi2 test was used to compare the proportion of participants between groups.