Table 1.
Cohort demographics
| Reference range | Controls (n = 9) |
ApoBR3500Q | P-value | ||
|---|---|---|---|---|---|
| Heterozygotes (n = 13) |
Homozygotes (n = 3) | ||||
| Age (years) | NA | 16 (7–26) | 14 (3–28) | 9 (4–22) | 0.707 |
| Males [n (%)] | NA | 5 (56) | 8 (62) | 2 (67) | 1.000 |
| Body mass index (kg/m2) | 18.5—24.9 | 21.5 (15.8–25.6) | 17.9 (14.7–24.5) | 13.9 (13.8–15.6) | 0.124 |
| Systolic blood pressure (mmHg) | NA | 110 (96–130) | 100 (90–140) | 90 (90–120) | 0.416 |
| Hemoglobin A1c (%) | ≤ 5.6 | 5.4 (5.1–5.8) | 5.2 (4.7–5.7) | 5.3 (5.3–5.4) | 0.220 |
| Free fatty acids (mmol/L) | < 0.60 | 0.4 (0.3–0.7) | 0.5 (0.2–1.4) | 0.7 (0.5–0.7) | 0.383 |
| Homocysteine (μmol/L) | < 11 | 6 (5–12) | 6 (4–10) | 6 (5–6) | 0.853 |
| Alanine aminotransferase (U/L) | < 34 | 16 (11–87) | 18 (8–77) | 16 (14–20) | 0.831 |
| Estimated GFR (mL/min/1.73 m2) | > 89 | 127 (93–150) | 130 (104–150) | 91 (79–150) | 0.831 |
| Thyroid stimulating hormone (μIU/mL) | 0.27–4.20 | 2.5 (1.6–3.2) | 2.5 (0.7–5.6) | 3.0 (1.3–3.2) | 0.695 |
| High-sensitivity CRP (mg/L) | < 1.0 | 0.7 (0.3–2.4) | 0.3 (0.3–1.9) | 1.1 (0.3–11.9) | 0.159 |
| Fibrinogen (mg/dL) | 126–437 | 352 (274–513) | 333 (239–476) | 387 (234–601) | 0.647 |
| Lipoprotein-associated phospholipase A2 (ng/mL) | < 200 | 151 (130–250) | 184 (144–239) | 226 (161–231) | 0.299 |
| Myeloperoxidase (pmol/L) | ≤ 320 | 318 (240–414) | 291(207–672) | 292 (205–381) | 0.209 |
| Total cholesterol (mg/dL) | NA | 168 (126–255) | 225 (149–297) | 396 (333–399) | 0.021 |
| LDL-C (mg/dL) | NA | 95 (59–154) | 165 (101–219) | 304 (288–341) | 0.001 |
| HDL-C (mg/dL) | NA | 71 (45–95) | 58 (40–100) | 66 (54–87) | 0.403 |
| Triglycerides (mg/dL) | NA | 32 (28–96) | 38 (28–98) | 53 (43–56) | 0.566 |
Biometric and clinical data for ApoBR3500Q heterozygotes and homozygotes and age-matched sibling controls in the study cohort. ApoBR3500Q homozygotes were not included in statistical analysis due to small sample size but are presented for completeness. Median (min–max) compared by the exact Wilcoxon rank-sum test unless noted. Fisher’s exact test used where n (%) reported
GFR, Glomerular filtration rate; CRP, C-reactive protein; NA, Not applicable