Table 1.
Clinical characteristics by ABCG5 and ABCG8 variant carrier status in sitosterolemia families.
| Non-carrier | ABCG5 LoF variant | ABCG8 LoF Variant | |||
|---|---|---|---|---|---|
| Heterozygote | Homozygote | Heterozygote | Homozygote | ||
| N | 12 | 21 | 8 | 5 | 1 |
| Age, mean (SD) | 42.1 (19) | 40.2 (21) | 12.9 (20) | 45.2 (19) | 1 |
| Male sex, n (%) | 3 (25) | 12 (57) | 3 (38) | 2 (40) | 0 |
| Lipid profile | |||||
| Total cholesterol, mg/dL, median (IQR) | 181 (166–207) | 217 (185–276)* | 539 (247–700) | 293 (223–307) | 968 |
| LDL cholesterol, mg/dL, median (IQR) | 100 (84–143) | 145 (126–176)* | 408 (166–594) | 169 (121–169) | 832 |
| HDL cholesterol, mg/dL, median (IQR) | 58 (52–76) | 50 (40–71) | 47 (40–54) | 65 (46–65) | 46 |
| Triglycerides, mg/dL, median (IQR) | 85 (65–95) | 91 (55–151) | 188 (140–248)* | 154 (73–154) | 71 |
| Lipoproteins | |||||
| Apolipoprotein A1, mg/dL, median (IQR) | 148 (139–164) | 139 (126–150) | 106 (97–129) | NA | NA |
| Apolipoprotein B, mg/dL, median (IQR) | 73 (63–109) | 104 (90–118)* | 262 (198–303) | NA | NA |
| Non–cholesterol sterols | |||||
| Sitosterol, μg/mL, median (IQR) | 2.3 (1.8–2.8) | 7.8 (6.0–11)* | 102 (74–125)* | 9.9 (8.2–12)* | 36.5 |
| Campesterol, μg/mL, median (IQR) | 3.7 (3.3–5.2) | 13 (11–14)* | 70 (65–95)* | NA | NA |
| Sitosterol / TC, μg/mg, median (IQR) | 1.3 (1.1–1.4) | 3.5 (2.7–4.7)* | 22 (14–30)* | 4.4 (3.9–5.3)* | 3.8 |
| Campesterol / TC, μg/mg, median (IQR) | 2.6 (1.8–2.6) | 5.4 (4.8–6.6)* | 13 (7.5–18) | NA | NA |
*
P value < 0.025 compared to non-carrier controls. P values were calculated by linear regression adjusted by kinship matrix within each family using the log-transformed values.
Abbreviations: HDL, high-density lipoprotein; IQR, interquartile range; LDL, low density lipoprotein; SD, standard deviation; TC, total cholesterol.