Table 1 Demographic and genotypic characteristics of subjects according to their status
Controls | HeFH | HoFH | P | |
|---|---|---|---|---|
Subjects (n) | 117 | 118 | 6 | |
Age (y) | 38.7 ± 16.8 | 37.7 ± 11.2 | 27.0 ± 10.7 | 0.1 |
Sex | 0.1 | |||
Men (%) | 68 (58.1) | 55 (46.6) | 2 (33.3) | |
Women (%) | 49 (41.9) | 63 (53.4) | 4 (66.7) | |
BMI (kg/m2) | 25.2 ± 4.5 | 25.4 ± 4.2 | 24.6 ± 2.7 | 0.9 |
LDLR mutations | ||||
Del >15 kb (%) | - | 66 (55.9) | - | |
W66G (%) | - | 37 (31.4) | - | |
Y468X (%) | - | 8 (6.8) | - | |
C646Y (%) | - | 3 (2.5) | - | |
C347R (%) | - | 1 (0.8) | - | |
C152W (%) | - | 1 (0.8) | - | |
R329X (%) | - | 1 (0.8) | - | |
Del 5 kb (%) | - | 1 (0.8) | - | |
Double Del >15 kb (%) | - | - | 3 (50.0) | |
Double W66G (%) | - | - | 1 (16.7) | |
Double C660X (%) | - | - | 1 (16.7) | |
Del 15 kb + W66G | - | - | 1 (16.7) | |
Smoking | <0.0001 | |||
Ever (%) | 87 (74.4) | 56 (47.5) | 0 | |
Never (%) | 30 (25.6) | 62 (52.5) | 6 (100.0) | |