Table S2.
Influence of MC4R mutations on anthropometric, biochemical, and pressure parameters
| Variables | Missense mutations (Ser36Thr, Val103Ile, and Phe202Leu) | Mutation Val103Ile | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| n | Absent | n | Present | P-value | n | Absent | n | Present | P-value | |
| Weight (kg) | 147 | 134.5 (117.8; 151.0) | 10 | 129.2 (115.8; 180.1) | 0.951 | 149 | 134.0 (117.5; 151.0) | 8 | 134.5 (117.1; 181.5) | 0.632 |
| Height (m) | 147 | 1.64 (1.58; 1.71) | 10 | 1.58 (1.54; 1.76) | 0.414 | 149 | 1.64 (1.58; 1.71) | 8 | 1.58 (1.55; 1.73) | 0.369 |
| BMI (kg/m2) | 147 | 48.9 (44.3; 55.0) | 10 | 48.2 (42.9; 57.8) | 0.812 | 149 | 48.9 (44.2; 54.9) | 8 | 51.8 (44.0; 63.3) | 0.332 |
| Waist circumference (cm) | 146 | 141.5 (128.9; 150.2) | 10 | 138.0 (135.2; 163.5) | 0.595 | 148 | 140.5 (129.2; 150.0) | 8 | 139.5 (134.0; 166.5) | 0.412 |
| Hip circumference (cm) | 146 | 145.0 (135.9; 154.0) | 10 | 142.0 (126.9; 160.0) | 0.534 | 148 | 144.5 (135.1; 153.7) | 8 | 146.0 (131.2; 169.5) | 0.667 |
| WHR | 146 | 0.97 (0.92; 1.0) | 10 | 0.99 (0.96; 1.05) | 0.048 | 148 | 0.97 (0.92; 1.00) | 8 | 0.97 (0.96; 1.03) | 0.283 |
| SBP | 87 | 134.0 (121.0; 150.0) | 9 | 124.0 (108.5; 143.5) | 0.189 | 89 | 135.0 (121.5; 150.0) | 7 | 116.0 (107; 140.0) | 0.063 |
| DBP | 87 | 89.0 (81.0; 98.0) | 9 | 74.0 (69.0; 91.0) | 0.079 | 89 | 89.0 (81.0; 98.5) | 7 | 73.0 (68.0; 90.0) | 0.020 |
| Glucose | 106 | 97.0 (90.0; 109.0) | 4 | 99.0 (86.5; 168.5) | 0.987 | 106 | 97.0 (90.0; 109.0) | 4 | 99.0 (86.5; 168.5) | 0.987 |
| Cholesterol total | 121 | 192.0 (165.5; 220.0) | 5 | 168.0 (154.0; 192.5) | 0.209 | 122 | 191.0 (164.5; 220.0) | 4 | 175.0 (165.0; 197.7) | 0.487 |
| HDL-cholesterol | 121 | 46.0 (41.0; 53.0) | 5 | 43.0 (36.0; 48.5) | 0.245 | 122 | 46.0 (41.0; 53.0) | 4 | 45.5 (36.2; 48.7) | 0.469 |
| LDL-cholesterol | 117 | 116.0 (95.0; 134.0) | 5 | 109.0 (84.0; 130.0) | 0.514 | 118 | 116.0 (94.5; 133.5) | 4 | 112.0 (99.2; 137.5) | 0.966 |
| Triglycerides | 121 | 127.0 (94.5; 167.0) | 5 | 99.0 (84.0; 148.0) | 0.368 | 122 | 128.0 (95.2; 168.7) | 4 | 95.0 (80.5; 118.5) | 0.140 |
| Hemoglobin | 90 | 5.6 (5.0; 6.3) | 3 | 6.3 (6.3) | 0.104 | 81 | 5.6 (5.0; 6.4) | 2 | 6.3 (6.3; 6.3) | 0.281 |
| CRP | 89 | 1.11 (0.65; 1.63) | 3 | 2.99 (0.51) | 0.296 | 90 | 1.12 (0.65; 1.65) | 2 | 1.75 (0.51) | 0.843 |
| Hypertensiona | ||||||||||
| Yes | 147 | 105 (71.4) | 10 | 6 (60) | 0.442 | 149 | 107 (71.8) | 8 | 4 (50) | 0.187 |
| No | 42 (28.6) | 4 (40) | 42 (28.2) | 4 (50) | ||||||
| Hypertensionb | ||||||||||
| Yes | 147 | 129 (87.8) | 10 | 6 (60) | 0.014 | 149 | 131 (88) | 8 | 4 (50) | 0.003 |
| No | 18 (12.2) | 4 (40) | 18 (12) | 4 (50) | ||||||
Notes: Data are presented as median values (IQR 25%–75%) for quantitative traits and n (%) for qualitative traits. Data were analyzed by Mann–Whitney test (for non-normally distributed variables) or χ2 test (for categorical variables).
a
Hypertension – based on blood pressure ≥140 × 90 mm Hg.
b
Hypertension – based on blood pressure ≥130 × 80 mm Hg.
*
P-value for differences between mutated and nonmutated subjects.
Abbreviations: BMI, body mass index; CRP, C-reactive protein; DBP, diastolic blood pressure; HDL-cholesterol, high-density lipoprotein-cholesterol; LDL-cholesterol, low-density lipoprotein-cholesterol; SBP, systolic blood pressure; WHR, waist–hip ratio.