Table 2.
Mean differences in lung function according to CFTR and SLC26A9 variants.
| All pancreatic insufficient | F508del/F508del | G551D/other | Gating$/other | |||||
|---|---|---|---|---|---|---|---|---|
| patients (n = 3,418) |
(n = 1,804) |
(n = 49) |
(n = 93) |
|||||
| SLC26A9 | Mean change | P-value | Mean change | P-value | Mean change | P-value | Mean change | P-value |
| variants$ | in CF SaKnorm∗ | in CF SaKnorm∗ | in CF SaKnorm∗ | in CF SaKnorm∗ | ||||
| rs7512462 | 0.03 ± 0.02 | 0.20 | 0.03 ± 0.03 | 0.29 | 0.14 ± 0.16 | 0.40 | 0.13 ± 0.12 | 0.27 |
| rs1874361 | –0.02 ± 0.02 | 0.30 | –0.00 ± 0.03 | 0.97 | –0.07 ± 0.16 | 0.66 | –0.17 ± 0.11 | 0.13 |
| rs12741299 | 0.01 ± 0.03 | 0.70 | –0.02 ± 0.04 | 0.64 | –0.06 ± 0.33 | 0.86 | 0.23 ± 0.23 | 0.32 |
| rs4077468 | 0.05 ± 0.02 | 0.01 | 0.05 ± 0.03 | 0.07 | 0.22 ± 0.18 | 0.22 | 0.14 ± 0.13 | 0.29 |
| rs4077469 | 0.05 ± 0.02 | 0.01 | 0.05 ± 0.03 | 0.08 | 0.22 ± 0.17 | 0.21 | 0.14 ± 0.13 | 0.26 |
| rs12047830 | 0.04 ± 0.02 | 0.03 | 0.03 ± 0.02 | 0.19 | 0.37 ± 0.18 | 0.05 | 0.27 ± 0.13 | 0.05 |
| rs7419153 | –0.02 ± 0.02 | 0.359 | –0.02 ± 0.03 | 0.47 | –0.35 ± 0.18 | 0.06 | –0.18 ± 0.14 | 0.20 |
$See description Supplementary Table S2; $Ivacaftor-approved CFTR gating mutations: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, and S549R; ∗change per minor allele (linear regression of SaKnorm Z-value with additive model). SaKnorm is normalized function of FEV1 (forced expiratory volume in 1 s) adjusted for age, sex, height, and cohort-specific survival.