Table 3 |.
Idiopathic CP cases show enrichment of damaging RGs in HSP-associated genes
| Gene set (no. of genes) | Observed | Expected | Enrichment | P | |||
|---|---|---|---|---|---|---|---|
| Homozygotes | Compound heterozygous | Unique genes | RGs | RGs | |||
| 250 CP cases | |||||||
| All genes (19,347) | 63 | 133 | 187 | 196 | – | – | – |
| Recessive known HSP genes (52) | 3 | 3 | 6 | 6 | 0.78 | 7.74 | 1.5 × 10−4 |
| Known HSP genes (73) | 3 | 3 | 6 | 6 | 0.97 | 6.20 | 4.8 × 10−4 |
| 157 idiopathic cases | |||||||
| All genes (19,347) | 49 | 89 | 136 | 138 | – | – | – |
| Recessive known HSP genes (52) | 3 | 2 | 5 | 5 | 0.54 | 9.22 | 2.4 × 10−4 |
| Known HSP genes (73) | 3 | 2 | 5 | 5 | 0.68 | 7.37 | 6.5 × 10−4 |
| 84 environmental cases | |||||||
| All genes (19,347) | 14 | 41 | 40 | 55 | – | – | – |
| Recessive known HSP genes (52) | 0 | 1 | 1 | 1 | 0.22 | 4.48 | 0.20 |
| Known HSP genes (73) | 0 | 1 | 1 | 1 | 0.28 | 3.60 | 0.24 |
| 1,789 controls | |||||||
| All genes (19,347) | 81 | 687 | 610 | 768 | – | – | – |
| Recessive known HSP genes (52) | 0 | 3 | 3 | 3 | 2.46 | 1.22 | 0.45 |
| Known HSP genes (73) | 0 | 3 | 3 | 3 | 2.94 | 1.02 | 0.56 |
The expected number of recessive genotypes was determined on the basis of fitted values from the polynomial regression model by using the damaging de novo probabilities. P values were calculated by using the one-tailed binomial probability. Values in bold are P values exceeding the Bonferroni multiple-testing cutoff (0.05/(3 × 4) = 4.2 × 10−3).