Table 3.
Effects of LDLR and PCSK9 rare variants on LDL cholesterol levels.
| Gene | Category | N | LDL-C (mg/dl) | Change from Non-Carriers of Rare LDLR/PCSK9 Variants | |||
|---|---|---|---|---|---|---|---|
| mean ± SD | Crude (95% CI) | P | Adjusted† (95% CI) | P | |||
| Non-Carriers of Rare LDLR/PCSK9 Variants | 5080 | 112.45 ± 31.61 | |||||
| LDLR | non-synonymous | 261 | 117.16 ± 37.98 | +4.71 (+0.73, +8.68) | 0.02 | +5.00 (+1.12, +8.87) | 0.012 |
| LDLR | Damaging | 34 | 155.08 ± 37.19 | +42.63 (+31.95, +53.31) | 5.97 × 10−15 | +44.42 (+34.03, +54.81) | 6.85 × 10−17 |
| LDLR | Disruptive | 21 | 155.77 ± 33.97 | +43.32 (+29.76, +56.87) | 4.02 × 10−10 | +48.49 (+35.26, +61.72) | 7.64 × 10−13 |
| PCSK9 | E32K | 186 | 128.74 ± 42.57 | +16.29 (+11.59, +20.98) | 1.12 × 10−11 | +17.97 (+13.39, +22.55) | 1.64 × 10−14 |
| PCSK9 | R93C | 102 | 102.18 ± 34.91 | −10.27 (−16.48, −4.06) | 1.2 × 10−3 | −12.44 (−18.49, −6.39) | 5.62 × 10−5 |
| PCSK9 | Disruptive | 4 | 80.70 ± 27.17 | −31.75 (−62.75, −0.76) | 0.045 | −38.49 (−68.64, −8.34) | 0.012 |
Changes from non-carriers and confidence intervals were calculated from linear regression models.
†Adjusted for age, gender, BMI, smoking status and cholesterol lowering medications.
Abbreviations: LDL-C, low-density lipoprotein cholesterol; SD, standard deviation; 95% CI, 95% confidence interval.