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. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681

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.