Table 1.
Demographic and clinical characteristics of all subjects
| Total (n = 142) | True homozygosity (n = 33) | Compound heterozygosity (n = 109) | P | Defective/Defective (n = 58) | Null/Defective (n = 61) | Null/Null (n = 23) | P | |
|---|---|---|---|---|---|---|---|---|
| Ages | 21.1 ± 12.1 | 23.8 ± 8.1 | 20.2 ± 13.1 | 0.14 | 21.4 ± 12.4 | 20.5 ± 12.7 | 22.1 ± 9.6 | 0.85 |
| Male sex, n (%) | 72, (50.1%) | 16, (48.5%) | 56, (51.4%) | 0.77 | 30, (51.7%) | 31, (51.0%) | 11, (47.8%) | 0.95 |
| Hypertension, n (%) | 4, (2.8%) | 1, (3.0%) | 3, (2.8%) | 0.93 | 2, (3.4%) | 2, (3.3%) | 0, (0.0%) | 0.67 |
| CVD, n (%) | 42, (30.3%) | 8, (24.2%) | 35, (32.1%) | 0.39 | 15, (26.9%) | 18, (29.5%) | 10, (43.5%) | 0.29 |
| LDL-C, mmol/L | 10.55 ± 3.63 | 10.35 ± 2.82 | 10.61 ± 3.86 | 0.72 | 8.75 ± 3.39 | 11.36 ± 3.43 | 12.96 ± 2.52 | <0.0001 |
| TC, mmol/L | 12.47 ± 3.67 | 12.21 ± 3.07 | 12.55 ± 3.84 | 0.65 | 10.68 ± 3.49 | 13.20 ± 3.31 | 15.06 ± 2.84 | <0.0001 |
| TG, mmol/L | 0.97 [0.69, 1.41] | 1.11 [0.59, 1.48] | 0.95 [0.71, 1.40] | 0.78 | 0.90 [0.61, 1.24] | 0.82 [0.69, 1.59] | 1.30[1.11, 1.48] | 0.0025 |
| HDL-C, mmol/L | 0.85 ± 0.38 | 0.91 ± 0.36 | 0.83 ± 0.34 | 0.31 | 0.93 ± 0.31 | 0.81 ± 0.41 | 0.74 ± 0.45 | 0.077 |
| APOB, g/L | 2.47 ± 0.64 | 2.47 ± 0.56 | 2.48 ± 0.67 | 0.94 | 2.20 ± 0.64 | 2.60 ± 0.54 | 2.89 ± 0.43 | <0.0001 |
| LP(a), mg/dL | 41.0 [21.0, 75.0] | 40.0 [24.1, 57.0] | 43.1 [18.0, 77.2] | 0.44 | 44.9 [17.6, 65.8] | 41.0 [23.0, 76.3] | 33.4 [16.0, 72.3] | 0.56 |
| Statin alone | 9, (6.3%) | 2, (6.1%) | 7, (6.4%) | 0.94 | 6, (10.3%) | 2, (3.3%) | 1, (4.3%) | 0.26 |
| Statin + Probucol | 22, (15.5%) | 6, (18.1%) | 16, (14.7%) | 0.63 | 11, (19.0%) | 8, (13.1%) | 3, (13.0%) | 0.64 |
| Statin + Ezetimibe | 111, (78.2%) | 25, (75.8%) | 86, (78.9%) | 0.70 | 41, (70.7%) | 51, (83.6%) | 19, (82.7%) | 0.20 |
Continuous data are presented as mean ± SD or median [interquartile range], categorical variables are presented as %. Two-tailed Student’s t test or Mann Whitney U test were used for continuous data in comparison of true homozygosity and compound heterozygosity. One-way ANOVA or Kruskal Wallis test was used for continuous data in comparison of defective/defective, null/defective, and null/null groups. The Chi-square test was used for categorical data. CVD, cardiovascular disease; LLT, lipid-lowering therapy; LDL-C, low-density lipoprotein cholesterol; TC, total cholesterol; TG, triglycerides; HDL-C, high-density lipoprotein cholesterol; APOB, apolipoprotein B; Lp(a), lipoprotein (a).