FIGURE 5.

Median forced expiratory volume in 1 s (FEV₁) z-scores of the whole primary ciliary dyskinesia (PCD) cohort and distinct PCD groups. a) The median FEV₁ z-score of the overall PCD cohort is −1.66 (interquartile range (IQR) −2.75– −0.752). Individuals with CCNO variants (n=25) show a significantly lower median FEV₁ z-score (−3.26, IQR −5.04– −2.13, p<0.0001) compared to the rest of the cohort. Individuals with DNA variants in CCDC39 (n=64) and CCDC40 (n=101) associated with microtubular disorganisation and inner dynein arm defects exhibit median FEV₁ z-scores significantly lower than the rest of the cohort (CCDC39: −2.49, IQR −3.28– −1.37, p<0.01; CCDC40: −2.96, IQR −3.77– −1.86, p<0.00001). The group of individuals with DNAH11 (n=119) and ODAD1 variants (n=34) show significantly higher median FEV₁ z-scores compared to the rest of the cohort (DNAH11: −0.831, IQR −1.57– −0.0984, p<0.0001; ODAD1 −0.850, IQR −1.57– −0.0984, p<0.01). Significant differences between distinct gene groups and the rest of the cohort are marked with asterisks. p≤0.05 was considered significant. **: p≤0.01; ****: p≤0.0001. b) The study cohort was divided into consecutive 5-year age groups to analyse age-dependence of FEV₁ z-scores. 528 PCD individuals have FEV₁ data represented in more than one age bin. Groups of older PCD individuals have increasingly lower FEV₁ z-scores (grey bars). The groups of individuals with CCNO, CCDC39 and CCDC40 variants have lower FEV₁ z-scores, while individuals with DNAH11 and ODAD1 variants have higher FEV₁ z-scores in most age bins compared to the total cohort. However, the median FEV₁ z-scores of the DNAH11 and ODAD1 variant group of individuals aged >60 or >30–35 years, respectively, show similarly low values as the total PCD cohort.