Table 2. Distribution of ITPA genotypes and corresponding ITPase functional activity in PEARL-IV.
| rs1127354 | rs7270101 | Predicted ITPase activity | Distribution in PEARL-IV % (n) | |
|---|---|---|---|---|
| -RBV 70% (157) |
+RBV 30% (68) |
|||
| Wild-type (CC) | Wild-type (AA) | 100% | 42% (93) | 18% (41) |
| Wild-type (CC) | Heterozygote (AC) | 60% | 16% (36) | 6% (14) |
| Wild-type (CC) | Homozygote (CC) | 30% | 0.9% (2) | 0% (0) |
| Heterozygote (CA) | Wild-type (AA) | 25% | 8% (18) | 5% (12) |
| Heterozygote (CA) | Heterozygote (AC) | 10% | 2% (5) | 0.4% (1) |
| Homozygote (AA) | Wild-type (AA) | <5% | 0.9% (2) | 0% (0) |