Table 3 De novo variants of chromatin modifier genes identified from the two CHD cohorts.
From: De novo damaging variants associated with congenital heart diseases contribute to the connectome
Variant Category | DDD Plus Study-Sifrim 2016 (N = 1039) | PCGC-Jin 2017 (N = 2645) | Combined CHD (N = 3684) | Controls (N = 1789) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Allele Count | OR | 95% CI | p-value | Allele Count | OR | 95% CI | p-value | Allele Count | OR | 95% CI | p-value | Allele Count | |
Total | 32 | 3.28 | 2.79, 6.01 | 7.15E-05 | 49 | 1.89 | 1.07, 3.33 | 0.028 | 81 | 2.27 | 1.32, 3.89 | 0.0017 | 16 |
PT | 19 | 15.53 | 3.61, 66.8 | 9.53E-07 | 25 | 7.71 | 1.82, 32.6 | 5.10E-04 | 44 | 9.85 | 2.38, 40.7 | 1.55E-05 | 2 |
Missense | 12 | 1.94 | 0.84, 4.51 | 0.13 | 17 | 1.04 | 0.47, 2.28 | 1.0 | 29 | 1.29 | 0.63, 2.65 | 0.60 | 10 |
D-mis | 8 | 2.59 | 0.84, 7.92 | 0.094 | 8 | 0.98 | 0.32, 3.00 | 1.0 | 16 | 1.42 | 0.52, 3.88 | 0.64 | 5 |
PT or D-mis | 27 | 6.33 | 2.75, 14.6 | 1.13E-06 | 33 | 2.91 | 1.28, 6.58 | 8.04E-03 | 60 | 3.84 | 1.75, 8.42 | 1.44E-04 | 7 |
Non D-mis | 4 | 1.29 | 0.34, 4.81 | 0.74 | 9 | 1.10 | 0.37, 3.29 | 1.0 | 13 | 1.15 | 0.41, 3.24 | 1.0 | 5 |
SYN | 0 | 0.18 | 0.01, 3.32 | 0.30 | 7 | 1.07 | 0.31, 3.66 | 1.0 | 7 | 0.77 | 0.23, 2.65 | 0.74 | 4 |
