Table 2.
Association between Saknorm and rs7512462 using additive and recessive codings in the CGMS prior to treatment.
Models | Covariate | Effect size | S.E. | P-value |
---|---|---|---|---|
Additive | rs7512462_C | 0.072 | 0.030 | 0.017 |
CFTR-Gating/Other | 0.210 | 0.094 | 0.025 | |
CFTR-MF/MF | –0.099 | 0.099 | 0.317 | |
Saknorm new reference equation | –0.244 | 0.050 | 1.41 × 10−6 | |
Recessive | rs7512462_CC | 0.130 | 0.057 | 0.022 |
CFTR-Gating/Other | 0.208 | 0.093 | 0.026 | |
CFTR-MF/MF | –0.101 | 0.099 | 0.307 | |
Saknorm new reference equation | –0.244 | 0.050 | 1.32 × 10−6 |
Saknorm is a continuous FEV1- based CF-specific percentile that is normalized and accounts for age, sex and height and is survival adjusted5,35. Saknorm5,35 is calculated with FEV1 measurements taken prior to modulator treatment, if applicable. The combined samples include individuals with gating mutations (n = 89), individuals homozygous for Phe508del (n = 1266) or those with two minimal function (MF) mutations (n = 63). All analyses use the robust covariance matrix estimates by the R package ‘rms’66. In addition to rs7512462, both models include a CFTR mutation group indicator, with reference group as homozygous Phe508del. Saknorm new reference equation is an indicator for the reference equation used to calculate Saknorm (Methods) depending on the year the lung function measurement was taken. Individuals with a gating variant, individuals who are homozygous Phe508del or those who carry two MF alleles are included.