Seven variants representing the 3 major HbF quantitative trait loci that were rationalized to a 4-variant model (g(HbF)) to represent the genetic component of HbF in SCD
| Gene . | Variant . | HbF-boosting allele . | Allele frequency . | g(HbF) model . | ||
|---|---|---|---|---|---|---|
| London, United Kingdom . | Dar es Salaam, Tanzania . | Coefficient (β) (95% confidence interval) . | P . | |||
| BCL11A (Chr 2) | rs6545816 (A>C) | C | 0.34 | 0.36 | 0.14 (0.08-0.19) | <.001 |
| rs1427407 (G>T) | T | 0.26 | 0.21 | 0.30 (0.26-0.35) | <.001 | |
| HMIP (HBSL1-MYB intergenic polymorphism on Chr 6) | ||||||
| 2A | rs9376090 (T>C) | C | 0.01 | |||
| rs66650371 (TAC>—) | 3bp del | 0.04 | 0.02 | 0.13 (0.08-0.17) | <.001 | |
| 2B | rs9494142 (T>C) | C | 0.05 | |||
| rs9494145 (T>C) | C | 0.05 | ||||
| HBG2-Xmn1 (β-globin gene cluster on Chr 11) | rs7482144 (G>A) | A | 0.07 | 0.01 | 0.10 (0.05-0.15) | <.001 |
| Gene . | Variant . | HbF-boosting allele . | Allele frequency . | g(HbF) model . | ||
|---|---|---|---|---|---|---|
| London, United Kingdom . | Dar es Salaam, Tanzania . | Coefficient (β) (95% confidence interval) . | P . | |||
| BCL11A (Chr 2) | rs6545816 (A>C) | C | 0.34 | 0.36 | 0.14 (0.08-0.19) | <.001 |
| rs1427407 (G>T) | T | 0.26 | 0.21 | 0.30 (0.26-0.35) | <.001 | |
| HMIP (HBSL1-MYB intergenic polymorphism on Chr 6) | ||||||
| 2A | rs9376090 (T>C) | C | 0.01 | |||
| rs66650371 (TAC>—) | 3bp del | 0.04 | 0.02 | 0.13 (0.08-0.17) | <.001 | |
| 2B | rs9494142 (T>C) | C | 0.05 | |||
| rs9494145 (T>C) | C | 0.05 | ||||
| HBG2-Xmn1 (β-globin gene cluster on Chr 11) | rs7482144 (G>A) | A | 0.07 | 0.01 | 0.10 (0.05-0.15) | <.001 |