Table 2.
Analysis of association between SNPs and HbF levels at baseline, MTD, and with delta HbF following HU treatment.
Gene | SNP | Genotype | MAF | Baseline HbF
|
MTD HbF
|
Delta HbF
|
|||
---|---|---|---|---|---|---|---|---|---|
β | P-value | β | P-value | β | P-value | ||||
BCL11A | rs1427407 | G>T | 0.273 | 1.84 | 0.033 | 3.30 | 0.004 | 2.55 | 0.021 |
rs4671393 | G>A | 0.282 | 2.09 | 0.006 | 3.16 | 0.009 | 2.02 | 0.069 | |
rs11886868 | T>C | 0.409 | 1.58 | 0.056 | 2.87 | 0.005 | 2.31 | 0.026 | |
HMIP-2 | rs9399137 | T>C | 0.145 | 4.57 | 0.00078 | 0.93 | 0.239 | −0.607 | 0.797 |
rs9402686 | G>A | 0.150 | 5.18 | 0.00005 | 1.00 | 0.185 | −0.621 | 0.842 |
HbF, fetal hemoglobin; SNP, single nucleotide polymorphisms; MTD, maximum tolerated dose; MAF, Minor Allele Frequency; β is the beta coefficient that represents the average change in %HbF per allele copy of each individual SNP (effect size). The P-values were calculated using linear regression testing of each HbF phenotype. The presented P-values for the MTD HbF analysis include covariate correction for baseline HbF.