Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients
Table 1
Allelic association of 14 SNPs related to BCL11A, HBS1L-MYB, and HBG2 promoter region in patients with β-thalassemia and controls.
SNP ID
Candidate gene
Chromosome position
Alleles (EA/OA)
Case versus control
Odds ratio (95% CI)
value
rs2071348
HBG2 region
11:5242916
T/G
1.184
0.832 (0.598–1.159)
0.277
rs7482144
HBG2 region
11:5254939
C/T
0.498
0.881 (0.620–1.252)
0.480
rs5006884
HBG2 region
11:5352021
T/C
1.222
0.818 (0.577–1.168)
0.269
rs766432
BCL11A
2:60492835
A/C
0
0.999 (0.719–1.388)
0.997
rs11886868
BCL11A
2:60493111
T/C
1.637
0.821 (0.607–1.111)
0.201
rs4671393
BCL11A
2:60493816
G/A
0.006
0.987 (0.709–1.375)
0.940
rs7557939
BCL11A
2:60494212
A/G
2.055
0.802 (0.592–1.085)
0.152
rs28384513
HBS1L-MYB
6:135055071
G/T
2.496
0.741 (0.511–1.075)
0.114
rs9376090
HBS1L-MYB
6:135090090
C/T
11.053
0.406 (0.235–0.700)
rs9399137
HBS1L-MYB
6:135097880
C/T
7.228
0.473 (0.271–0.824)
rs4895441
HBS1L-MYB
6:135105435
G/A
8.785
0.449 (0.262–0.771)
rs9389269
HBS1L-MYB
6:135106021
C/T
7.096
0.495 (0.293–0.837)
rs9402686
HBS1L-MYB
6:135106679
A/G
7.096
0.495 (0.293–0.837)
rs9494142
HBS1L-MYB
6:135110502
C/T
9.936
0.459 (0.280–0.751)
Significant association values () for the allelic model. EA: effect allele tested for association; OA: other allele; p: value unadjusted; chromosome position as per GRCh38.p2 Assembly.
