Table 1. Foetal haemoglobin association results for SNPs at the BCL11A, HBS1L-MYB and beta-globin loci in the Cameroonian and Tanzanian sickle cell anaemia cohort.
| Locus | Genomic variations | HbSS Cameroon (n = 596)14 | HbSS Tanzania (n = 1 124)13 | ||||||
| SNP | Position on the chromosome* | Allele change | MAF | Effect size | p-value | MAF | Effect size | p-value | |
| Chromosome 2 | |||||||||
| BCL11A | rs11886868 | 60720246 | T>C | 0.31 | 0.167 | 0.0129 | 0.26 | –0.406 | 3.00E-30 |
| BCL11A | rs4671393 | 60720951 | G>A | 0.3 | 0.201 | 0.0062 | 0.3 | –0.412 | 3.90E-28 |
| Chromosome 6 | |||||||||
| HBS1L-MYB | rs28384513 | 135376209 | A>C | 0.2 | –0.3002 | 0.0002 | 0.21 | –0.146 | 1.90E-04 |
| HBS1L-MYB | rs9376090 | 135411228 | T>C | 0 | NA | NA | 0.01 | 0.471 | 1.60E-02 |
| HBS1L-MYB | rs9399137 | 135419018 | T>C | 0.04 | 0.412 | 0.0086 | 0.01 | 0.668 | 8.30E-06 |
| HBS1L-MYB | rs9389269 | 135427159 | T>C | 0.18 | 0.09561 | 0.2468 | 0.03 | 0.4 | 1.40E-05 |
| HBS1L-MYB | rs9402686 | 135427817 | G>A | 0.03 | 0.1447 | 0.4437 | 0.06 | 0.342 | 1.60E-04 |
| HBS1L-MYB | rs9494142 | 135431640 | T>C | 0.11 | 0.3391 | 0.0023 | 0.13 | 0.085 | 6.00E-02 |
| Chromosome 11 | |||||||||
| HBG2 | rs7482144 | 5276169 | G>A | 0 | –0.05843 | 0.9076 | 0.01 | 0.562 | 1.60E-04 |
| OR51B5/6 | rs5006884 | 5373251 | C>T | 0.08 | 0.04163 | 0.7385 | 0.05 | 0.164 | 2.40E-02 |
NA, not applicable; monomorphic T for the entire sample; MAF, minor allele frequency; SNP, single-nucleotide polymorphisms. *Chromosome, position on NCBI Build 36.1.