Research Article
Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients
Table 2
Frequency of haplotypes of SNPs in HBG2, BCL11A, and HBS1L-MYB compared between patients with β-thalassemia and control cohorts.
| Block | Candidate gene | Haplotype | Case versus control | Overall frequency | Case; control frequencies | | value |
| 1 | HBG2 region | TCC | 0.574 | 0.618, 0.528 | 5.652 | 0.0174 | HBG2 region | GTT | 0.119 | 0.150, 0.086 | 6.767 | | HBG2 region | TCT | 0.114 | 0.103, 0.126 | 0.907 | 0.3409 | HBG2 region | GTC | 0.108 | 0.079, 0.138 | 6.136 | 0.0132 | HBG2 region | GCC | 0.064 | 0.044, 0.085 | 4.858 | 0.0275 | HBG2 region | TTC | 0.016 | 0.003, 0.029 | 7.306 | 0.0069 |
| 2 | BCL11A | ATGA | 0.516 | 0.540, 0.491 | 1.648 | 0.1992 | BCL11A | CCAG | 0.293 | 0.290, 0.296 | 0.025 | 0.8752 | BCL11A | ACGG | 0.18 | 0.158, 0.204 | 2.439 | 0.1183 |
| 3 | HBS1L-MYB | TTTATGT | 0.725 | 0.692, 0.760 | 3.898 | 0.0484 | HBS1L-MYB | GTTATGT | 0.145 | 0.139, 0.152 | 0.243 | 0.6223 | HBS1L-MYB | GCCGCAC | 0.047 | 0.065, 0.028 | 5.257 | | HBS1L-MYB | TCCGCAC | 0.031 | 0.041, 0.021 | 2.25 | 0.1336 | HBS1L-MYB | TTTATGC | 0.018 | 0.023, 0.012 | 1.13 | 0.2877 |
| Significant SNPs | HBS1L-MYB | TTATGT | 0.87 | 0.830, 0.912 | 9.837 | 0.0017 | HBS1L-MYB | CCGCAC | 0.078 | 0.106, 0.049 | 7.739 | | HBS1L-MYB | TTATGC | 0.018 | 0.023, 0.012 | 1.15 | 0.2835 | HBS1L-MYB | CTGCAC | 0.012 | 0.020, 0.003 | 4.181 | |
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Significant risk haplotypes (). Order of significant SNPs: rs9376090, rs9399137, rs4895441, rs9389269, rs9402686, and rs9494142. Haplotype associated with low HbF levels.
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