Table 2.
Yield per person of TTNtv and damaging* group A gene variants in the discovery cohort and in replication cohorts.
| Variants | DCM cases | Control subjects | ||||
|---|---|---|---|---|---|---|
| Discovery (n=532) |
FDCM (n=101) |
Discovery (n=527) |
Alzheimer’s (n=2971) |
MGRB (n=1144) |
||
| Single TTNtv | 85 | 15 | 6 | 6 | 13 | |
| Two TTNtv | 1 | 0 | 0 | 0 | 0 | |
| TTNtv + group A trunc | 1 | 0 | 0 | 0 | 0 | |
| TTNtv + group A missense | 5 | 1 | 0 | 0 | 1 | |
| Group A trunc only | 13 | 6 | 2 | 9 | 3 | |
| Group A trunc + missense | 0 | 1 | 0 | 0 | 0 | |
| Group A missense only | 46† | 9 | 6 | 46 | 29 | |
| None | 381 | 69 | 513 | 2910 | 1098 | |
*
Damaging variants included truncating (trunc) or “novel (ExAC) + deleterious (MetaSVM)” missense variants in group A genes (TTN excluded).
†
Three cases had 2 variants. ADSP, Alzheimer’s Disease Sequencing Project; FDCM, familial dilated cardiomyopathy; MGRB, Medical Genome Reference Bank.