Table 1 De novo variants of 229 NDD genes identified from CHD individuals of DDD Plus Study and PCGC 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 | 94 | 2.80 | 2.00, 3.93 | 1.50E-09 | 163 | 1.79 | 1.32, 2.44 | 1.52E-04 | 257 | 2.07 | 1.54, 2.77 | 2.96E-07 | 57 |
PT | 44 | 10.48 | 3.76, 18.31 | 1.33E-12 | 62 | 5.51 | 2.52, 12.07 | 2.60E-07 | 106 | 6.87 | 3.19, 14.78 | 1.72E-10 | 7 |
Missense | 44 | 1.90 | 1.02, 2.38 | 0.0054 | 75 | 1.21 | 0.82, 1.80 | 0.38 | 119 | 1.40 | 0.97, 2.02 | 0.079 | 38 |
D-mis | 23 | 3.13 | 1.19, 4.72 | 0.0013 | 33 | 1.69 | 0.87, 3.28 | 0.12 | 56 | 2.08 | 1.11, 3.90 | 0.017 | 12 |
PT or D-mis | 67 | 5.97 | 2.79, 7.67 | 4.81E-14 | 95 | 3.13 | 1.90, 5.14 | 7.10E-07 | 162 | 3.89 | 2.41, 6.28 | 7.80E-11 | 19 |
Non D-mis | 21 | 1.31 | 0.68, 2.01 | 0.37 | 42 | 0.99 | 0.60, 1.62 | 1.0 | 63 | 1.08 | 0.68, 1.70 | 0.82 | 26 |
SYN | 6 | 0.80 | 0.25, 1.61 | 0.81 | 26 | 1.33 | 0.67, 2.64 | 0.50 | 32 | 1.18 | 0.61, 2.30 | 0.74 | 12 |
