Table 1.
Mean methylation of repetitive elements in whole blood samples of WS patients and matched controls
| Mutant gene | Disease status | α‐satellite DNA | ALU repeats | LINE1 repeats | rDNA promoter | rDNA prom./UCE | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N | Mean | SE | N | Mean | SE | N | Mean | SE | N | Mean | SE | N | Mean | SE | ||
| WRN | Controls | 18 | 88.4 | 0.4 | 18 | 25.0 | 0.3 | 17 | 83.9 | 0.3 | 17 | 17.6 | 1.0 | 18 | 25.4 | 1.3 |
| Patients | 18 | 88.4 | 0.3 | 18 | 25.3 | 0.1 | 18 | 84.2 | 0.3 | 18 | 19.8 | 1.4 | 18 | 27.9 | 1.9 | |
| LMNA | Controls | 3 | 88.7 | 0.6 | 3 | 25.6 | 0.3 | 3 | 83.5 | 1.0 | 3 | 22.2 | 3.2 | 3 | 30.9 | 3.7 |
| Patients | 3 | 88.6 | 0.6 | 3 | 25.4 | 0.2 | 3 | 83.2 | 0.7 | 3 | 18.0 | 1.0 | 3 | 24.7 | 1.7 | |
| POLD1 | Controls | 3 | 89.3 | 0.6 | 3 | 24.8 | 1.1 | 3 | 83.4 | 0.6 | 2 | 17.1 | 1.8 | 3 | 28.7 | 0.7 |
| Patients | 3 | 89.5 | 0.4 | 3 | 25.2 | 0.8 | 3 | 84.1 | 0.8 | 2 | 18.6 | 0.6 | 3 | 28.8 | 3.5 | |