Table 3.
Phenotypes of compound heterozygotes for PCSK9 null mutations.
| Trait | Individual 1 | Individual 2 | Individual 3 |
|---|---|---|---|
| Demographic | |||
|
| |||
| Sex | Female | Female | Male |
| Age (years) | 50 | 50 | 52 |
| Current Smoker | Yes | No | Yes |
|
| |||
| Anthropometrics | |||
|
| |||
| Body Mass Index [BMI] (kg/m2) | 23.7 | 36.7 | 28.3 |
| Weight (kg) | 60.6 | 95.2 | 84.6 |
| Height (cm) | 160 | 161 | 173 |
| Waist Circumference (cm) | 82 | 118 | 96 |
| Neck Circumference (cm) | 34 | 36 | 40 |
|
| |||
| Hypertension | |||
|
| |||
| Hypertension, Yes [HTN] | No | Yes | Yes |
| Systolic Blood Pressure [SBP] (mmHg)* | 96 | 140 | 166 |
| Diastolic Blood Pressure [DBP] (mmHg)* | 64 | 84 | 105 |
| Anti-hypertensive treatment | No | Yes | No |
|
| |||
| Lipids | |||
|
| |||
| LDL-C (mg/dl) | 71.6 | 64.2 | 32 |
| HDL-C (mg/dl) | 63 | 98 | 41 |
| Triglycerides (mg/dl) | 97 | 34 | 142 |
| Total Cholesterol (mg/dl) | 154 | 169 | 101 |
| Lipid-lowering Treatment | No | No | Not reported |
|
| |||
| Coronary Heart Disease | |||
|
| |||
| Coronary Heart Disease Status [CHD] | No | No | No |
| Coronary Artery Calcium Score [CAC] | 2.7 | 0 | 24.9 |
| CAC percentile | 87th | 0th | 83rd |
|
| |||
| Diabetes | |||
|
| |||
| Diabetic Status | Yes | No | No |
| Fasting Insulin (Plasma IU/mL) | 17 | 12 | 13 |
| HOMA-B (mmol/l) | 194.4 | 200.6 | 139.9 |
| HOMA-IR (mmol/l) | 4.0 | 2.5 | 3.1 |
| Fasting Plasma Glucose Level (mg/dL) | 95 | 85 | 97 |
| Hemoglobin HbA1c (%) | 6.3 | 5.4 | 5.4 |
|
| |||
| Biomarkers | |||
|
| |||
| Leptin (Serum ng/mL) | 13.8 | 55.3 | 12.9 |
| High Sensitivity C-Reactive Protein [hsCRP] (Serum mg/dL) | 0.1 | 6.4 | 0.2 |
| Endothelin-1 (Serum pg/mL) | 1.4 | 1.5 | 3 |
| Aldosterone (Serum ng/dL) | 4.6 | 1.9 | 5.6 |
| Renin Activity RIA (Plasma ng/mL/hr) | 1.3 | 1.4 | 0.3 |
| Cortisol Levels (Serum ug/dL) | 6.2 | 12.2 | 8.8 |
| Adiponectin (Plasma ng/mL) | 2585.5 | 4847.6 | 3184.3 |
|
| |||
| Electrocardiogram | |||
|
| |||
| QT Interval (msec) | 366 | 362 | 380 |
| QRS Interval (msec) | 84 | 102 | 114 |
|
| |||
| Blood | |||
|
| |||
| Hematocrit level (%) | 41.1 | 38.7 | 47.8 |
| Hemoglobin (g/dl) | 13.8 | 13.2 | 15.3 |
| Mean corpuscular hemoglobin [MCH] (pg) | 30.6 | 30.3 | 27 |
| Mean corpuscular hemoglobin concentration [MCHC] (%) | 33.7 | 34.2 | 32 |
| Mean corpuscular volume [MCV] (fL) | 90.8 | 88.5 | 84.4 |
| Red blood cell distribution width [RDW] (%) | 13.2 | 14.3 | 13.4 |
| Red cell count (m/cmm) | 4.5 | 4.4 | 5.7 |
*
Values were adjusted for individuals on blood pressure lowering medication.