Table 2.
Variant burden comparisons per gene between patients and either study controls or ExAC controls.
| Gene | Number of variants in 882 patient alleles | Number of variants in 366 control alleles | Number of variants in ExAC alleles | p-value patients-controls | p-value patients-ExAC |
|---|---|---|---|---|---|
| ACTA2 | 2 | 1 | 109 in 120,631 | 1.00 | 0.44 |
| ACVR1 | 2 | 1 | 202 in 120,994 | 1.00 | 0.98 |
| ELN | 4 | 2 | 728 in 113,954 | 1.00 | 0.63 |
| FBN1 | 16 | 5 | 1,740 in 120,988 | 0.81 | 0.43 |
| FLNA | 3* | 6* | 1,133 in 84,359* | 0.03 | 0.15 |
| GATA4 | 5 | 1 | 260 in 105,980 | 0.68 | 0.11 |
| GATA5 | 2 | 3 | 259 in 86,819 | 0.15 | 0.94 |
| GATA6 | 5 | 3 | 240 in 95,775 | 0.70 | 0.13 |
| MAT2A | 0 | 0 | 74 in 116,667 | / | / |
| MATR3 | 1 | 0 | 382 in 119,089 | / | 0.43 |
| MYH11 | 17 | 8 | 2,513 in 119,001 | 0.82 | 0.79 |
| NKX2-5 | 5 | 0 | 360 in 98,978 | / | 0.47 |
| NOS3 | 5 | 7 | 1,390 in 102,070 | 0.05 | 0.06 |
| NOTCH1 | 10 | 7 | 2,181 in 101,245 | 0.29 | 0.05 |
| ROBO1 | 12 | 5 | 1,354 in 113,390 | 1.00 | 0.77 |
| ROBO2 | 9 | 5 | 1,245 in 119,282 | 0.57 | 0.95 |
| SMAD3 | 0 | 1 | 95 in 111,500 | / | / |
| SMAD6 | 11 | 1 | 450 in 94,779 | 0.20 | 0.002 |
| TGFB2 | 1 | 0 | 192 in 117,070 | / | 0.71 |
| TGFB3 | 0 | 0 | 205 in 121,315 | / | / |
| TGFBR1 | 2 | 0 | 181 in 118,320 | / | 0.90 |
| TGFBR2 | 0 | 1 | 366 in 115,147 | / | / |
Variant burden analyses were performed comparing frequencies of the variants fulfilling the three criteria that were mentioned in “Section Data Analysis and Filtering” between patients and controls. Whereas, the Fisher's Exact Test was used to statistically compare variant frequencies in the patient cohort to those in the study control cohort, the Chi-Square Test with Yates' correction was used for the patient-ExAC comparison. No p-values were calculated if the number of variants in patients and/or controls was zero. Statistical significance was considered when p < 0.05. The asterisks denote that in these cases the number of alleles is consistent with the number of X-chromosomes, i.e., 553 patient alleles and 260 control alleles were checked for variants. Statistically significant p-values are represented in bold.