Table 3. Enrichment of rare NRAP variants in patients with dilated cardiomyopathy (DCM).
Control group | Non-DCM cardiac group | OR (95% CI), P-value | DCM group | OR (95% CI), p-value | |
---|---|---|---|---|---|
Individuals (n) | 25912 | 5150 | 577 | ||
Dominant hypothesis | |||||
Only one PTV variant | 75 (0.29%) | 24 (0.47%) | 1.61 (1.02–2.56), p = 0.04 | 11 (1.91%) | 6.71 (3.5–12.7), p<0.0001 |
Only one missense variant | 698 (2.45%) | 132 (2.56%) | 1.05 (0.86–1.26), p = 0.65 | 10 (1.74%) | 0.70 (0.4–1.3), p = 0.27 |
Recessive hypothesis | |||||
Two missense variants | 27 (0.10%) | 1 (0.02%) | 0.18 (0.02–1.35), p = 0.10 | 0 (0.0%) | 0.81 (0.05–13.4), p = 0.89 |
One PTV + one missense | 0 | 0 | NA | 6 (1.04%) | 590 (33–10494), p<0.0001 |
Two PTV variants | 0 | 0 | NA | 5 (0.87%) | 407 (22–7575), p<0.0001 |
PTV + missense or 2 PTVs | 0 | 0 | NA | 11 (1.91%) | 1052(62–17876), p<0.0001 |
Control group patients underwent genetic testing due to non-cardiac reasons and non-DCM group patients due to cardiological reasons excluding patients with DCM or suspected DCM. DCM group includes patients tested with a DCM Panel or other panels because of confirmed or suspected DCM. Abbreviations: pts, patients; OR, odds ratio; 95% CI, 95% confidence interval, DCM, dilated cardiomyopathy, PTV, Protein-truncating variant (means here nonsense, frameshift variant, consensus splice site, start lost). Only variants with 100 or fewer heterozygous individuals in a gnomAD reference population cohort were included in calculations.