Table 1.
This study provides evidence that CHIP-mutated leukocytes have the potential to invade human atherosclerotic plaques in coronary and carotid arteries, and heart muscle from peripheral blood. Out of 25 unique CHIP mutations (identified in whole blood), 18 mutations (shown) were identified in at least one corresponding tissue of interest. Tissue sequencing of CHIP mutation carriers revealed that identical CHIP mutations were identified in the corresponding coronary artery (n=13), carotid artery (n=10) and left ventricular heart muscle (n=4) (right). Provided are mutations on DNA level and variant allele frequency (VAF) in %.
| CHIP-affected gene (mutation) | Whole Blood (VAF in %) | Coronary (VAF in %) | Carotid (VAF in %) | Heart Muscle (VAF in %) |
|---|---|---|---|---|
| ASXL1 (c.1772dup) | 5.2 | 1.2 | 0 | 0 |
| CBL (c.1211G>A) | 9.1 | 2.2 | 0 | 0 |
| DNMT3A (c.1628G>C) | 21.6 | 0 | 5.4 | 0 |
| DNMT3A (c.976C>T) | 20.5 | 0 | 2.4 | 0 |
| DNMT3A (c.2333T>G) | 6.5 | 2.5 | 0 | 0 |
| DNMT3A (c.2245C>T) | 5.6 | 1.5 | 0 | 1.5 |
| DNMT3A (c.1726_1729delinsC) | 22.6 | 5.9 | 5.8 | 0 |
| DNMT3A (c.1969G>A) | 5.3 | 1.0 | 1.1 | 0 |
| DNMT3A (c.2204A>G) | 11.3 | 0 | 2.5 | 0 |
| DNMT3A (c.2104G>T) | 11.8 | 1.4 | 2.7 | 0 |
| PPM1D (c.1535del) | 0.7 | 0 | 2.0 | 0 |
| PPM1D (c.1535del) | 0.9 | 1.8 | 0 | 0 |
| SMC3 (c.3598G>A) | 6.0 | 1.1 | 0 | 1.0 |
| TET2 (c.2839C>T) | 19.2 | 4.0 | 5.1 | 0 |
| TET2 (c.4193T>G) | 6.4 | 2.1 | 2.1 | 0 |
| TET2 (c.1219del) | 27.7 | 4.4 | 0 | 2.0 |
| TET2 (c.4546C>T) | 29.7 | 5.1 | 0 | 2.6 |
| TET2 (c.5454_5458del) | 9.8 | 0 | 2.1 | 0 |