Table 2.
Identification of rare disease-causing variants (DCV) and rare variants with unknown clinical significance (VUS) in the leptin-melanocortin signalling pathway in participants with and without obesity.
| Total | Without obesity | With excess body weight | ||
|---|---|---|---|---|
| Total | Participants | 1508 (100.0) | 261 (17.3) | 1247 (82.7) |
| Female (%) | 824 (54.6) | 134 (8.9) | 690 (45.8) | |
| Age [Median (IQR)] | 12.5 (5.7) | 9.6 (7.3) | 12.8 (5.2) | |
| BMI SDS [Median (IQR)] | 2.6 (1.3) | -0.1 (1.3) | 2.8 (0.9) | |
| DCV | Participants | 21 (1.4) | / | 21 (1.4) |
| Female (%) | 11 (0.7) | / | 11 (0.7) | |
| Age [Median (IQR)] | 14.0 (5.8) | / | 14.0 (5.8) | |
| BMI SDS [Median (IQR)] | 3.3 (0.9) | 0 (0.0) | 3.3 (0.9) | |
| VUS | Participants | 62 (4.1) | 6 (0.4) | 56 (3.7) |
| Female (%) | 31 (2.1) | 3 (0.2) | 28 (1.9) | |
| Age [Median (IQR)] | 12.3 (5.7) | 13.7 (7.8) | 12.3 (5.5) | |
| BMI SDS [Median (IQR)] | 2.7 (1.2) | 0.7 (1.6) | 2.7 (0.9) | |
| No variant | Participants | 1425 (94.5) | 255 (16.9) | 1170 (77.6) |
| Female (%) | 782 (51.9) | 131 (8.7) | 651 (43.2) | |
| Age [Median (IQR)] | 12.5 (5.7) | 9.6 (7.3) | 12.8 (5.1) | |
| BMI SDS [Median (IQR)] | 2.6 (1.4) | 0.1 (1.2) | 2.8 (0.9) |