TABLE I.
Population Distribution of ITPA Deficiency
| rs1127354 | rs7270101 | Predicted ITPase activity |
Predicted ITPase deficiency |
Overall, n (%) |
HCV, n (%) |
HIV/HCV, n (%) |
|---|---|---|---|---|---|---|
| Wild type (C/C) | Wild type (A/A) | 100 | − | 83 (70.3) | 35 (63.6) | 48 (76.2) |
| Wild type (C/C) | Heterozygous (A/C) | 60 | + | 14 (11.9) | 8 (14.5) | 6 (9.5) |
| Heterozygous (C/A) | Wild type (A/A) | 30 | ++ | 14 (11.9) | 6 (10.9) | 8 (12.7) |
| Wild type (C/C) | Homozygous (C/C) | 30 | ++ | 5 (4.2) | 4 (7.3) | 1 (1.6) |
| Heterozygous (C/A) | Heterozygous (A/C) | 10 | +++ | 2 (1.7) | 2 (3.6) | 0 |
| Homozygous (A/A) | Wild type (A/A) | <5 | +++ | 0 | 0 | 0 |
Severity of ITPase deficiency was predicted as absent, representing wild-type activity (−) and mild (+), moderate (++), or severe (+++) deficiency according to previous studies. ITPase activity was defined as the accumulated presence of minor alleles at the respective polymorphic sites [the minor alleles for both SNPs never occurred together on the same chromosome].
The prevalence of different alleles and the predicted levels of ITPAse deficiency according to the haplotypes.