Table 1.
Study population | Genotype frequency (%) | ||||||||
---|---|---|---|---|---|---|---|---|---|
rs3024997 (G>A) | rs2146323 (C>A) | rs10434 (A>G) | |||||||
G/G | A/A | G/A | C/C | A/A | C/A | A/A | G/G | A/G | |
Healthy individuals | 34 | 21 | 45 | 60 | 9 | 31 | 18 | 31 | 51 |
β-thalassemia major patients | 26 | 16 | 58 | 51 | 3 | 46 | 21 | 33 | 46 |
NTDT patients | 47 | 6 | 47 | 33 | 11 | 56 | 21 | 29 | 50 |
HU responders | 26 | 16 | 58 | 43 | 10 | 48 | 26 | 26 | 48 |
HU non-responders | 35 | 12 | 53 | 63 | 17 | 20 | 25 | 29 | 46 |
The number of individuals per group (n) is indicated in parentheses per tagSNP: rs3024997 healthy individuals (n = 112), NTDT patients (n = 17), β-thalassemia major patients (n = 112), HU responders (n = 19), HU non-responders (n = 26); rs2146323 healthy individuals (n = 115), NTDT patients (n = 18), β-thalassemia major patients (n = 114), HU responders (n = 21), HU non-responders (n = 30); rs10434 healthy individuals (n = 72), NTDT patients (n = 14), β-thalassemia major patients (n = 105), HU responders (n = 19), HU non-responders (n = 28)
HU hydroxyurea, NTDT non-transfusion-dependent thalassemia