Table 5. Genetic association between iron and ferritin levels and haplotype-pairs in SLC11A2 and TMPRSS6 in SAPHIR.
| Gene | Family member | Haplotype pair | N | Iron | Ferritin | ||
| β | p-value | β | p-value | ||||
| SLC11A2 | Reference | ACAC/ACAT | 776 | – | – | – | – |
| Son 1 | ACAC/ACAC | 600 | −0.8251 | 0.614 | −10.2684 | 0.638 | |
| All others | ACAC/CTGT | 123 | −1.3861 | 0.577 | −10.1689 | 0.241 | |
| TMPRSS6 | Reference | CAC/CGT | 551 | – | – | – | – |
| Father | CGT/CAT | 13 | 7.4050 | 0.32302 | −15.080 | 0.5242 | |
| Mother | TGT/TAC | 30 | −3.2822 | 0.85529 | 20.153 | 0.4125 | |
| Son 1 & Daughter 1 | TAC/CAT | 4 | 2.1344 | 0.92762 | 2.234 | 0.5159 | |
| Son 2 | TGT/CAT | 6 | −34.115 | 0.00278 | −75.317 | 0.0387 | |
| Daughter 2 | CGT/TAC | 0 | Not present | Not present | |||
| SLC11A2/TMPRSS6 | Father | ACAC/CTGT; CGT/CAT | 1 | −8.65582 | 0.9257 | 10.7409 | 0.712 |
| combined | Mother | ACAC/CTGT; TGT/TAC | 0 | Not present | Not present | ||
| Son 1 | ACAC/ACAC; TAC/CAT | 1 | −50.7302 | 0.0630 | −131.511 | 0.566 | |
| Son 2 | ACAC/CTGT; TGT/CAT | 1 | −60.555 | 0.0128 | −260.230 | 9.57e-05 | |
| Daughter 1 | ACAC/CTGT; TAC/CAT | 0 | Not present | Not present | |||
| Daughter 2 | ACAC/CTGT; CGT/TAC | 0 | Not present | Not present | |||
Notes: For the haplotype pairs in SLC11A2 and TMPRSS6, the regression was performed on all haplotype pairs in one model with the most probable haplotype pair as the reference. For the combined analysis, each line reflects the results from a regression model of this particular haplotype-pair versus all other pairs on the traits (each model sex- and age-adjusted). The p-values are based on the log-transformed model; the β-estimates are based on the model on the original scale.