TABLE 1.
Demographic and clinical characteristics of the Canadian CF Gene Modifier Study (CGMS) and French CF Modifier Gene Study (FCGS) individuals
| CGMS genotyped# | First P. aeruginosa age GWAS¶ | Chronic P. aeruginosa age GWAS+ | Chronic P. aeruginosa age FCGS validation analysis§ | |
|---|---|---|---|---|
| Individuals (n) | 2728 | 1653 | 1037 | 501 |
| Ageƒ (years) | ||||
| Mean±sd | 34.6±13.6 | 34.0±11.9 | 36.3±11.2 | 23.6±4.7 |
| Range | (3.5–90.1) | (5.0–80.5) | (6.8–71.1) | (12.6–30.7) |
| Male (%) | 53.3 | 51.8 | 51.7 | 48.9 |
| Age at CF diagnosis (years) | 4.1±8.8 | 2.3±5.1 | 2.1±4.1 | 1.3±2.4 |
| CFTR genotype distribution (%) | ||||
| F508del/F508del | 52.1 | 58.3 | 59.0 | 66.7 |
| F508del/MF | 37.8 | 33.6 | 33.1 | 31.3 |
| MF/MF | 10.2 | 8.2 | 7.9 | 2.0 |
| Pancreatic exocrine insufficient## (%) | 88.7 | 100 | 100 | 100 |
| Sweat chloride (ng·mL−1) | 97.4±22.5 | 101.2±19.6 | 102.0±20.3 | 102.1±26.7 |
| Newborn screening (%) | 11.6 | 8.8 | 11.4 | 22.2 |
| European ancestry (%) | 96.0 | 96.1 | 95.7 | 92.2 |
| First P. aeruginosa age (years) | ||||
| Mean±sd | 9.9±10.1 | 8.8±8.2 | 9.0±7.8 | 7.3±6.1 |
| Range | (0.0–74.6) | (0.0–64.4) | (0.0–52.1) | (0.0–28.4) |
| Range of diagnosis date | 06/11/1966– 28/12/2018 |
06/11/1966– 28/12/2018 |
06/11/1966– 29/08/2017 |
12/07/1991– 13/08/2021 |
| Missing rate (%) | 33.6 | NA | 7.9 | 0 |
| Chronic P. aeruginosa age (years) | ||||
| Mean±sd | 12.7±9.3 | 11.4±7.9 | 11.9±7.9 | 11.6±6.3 |
| Range | (0.3–66.8) | (0.3–52.1) | (0.3–52.1) | (0.01–29.2) |
| Range of diagnosis date | 06/11/1966– 29/08/2017 |
06/11/1966– 29/08/2017 |
06/11/1966– 29/08/2017 |
01/09/1991– 13/08/2021 |
| Missing rate (%) | 59.1 | 42.3 | NA | NA |
Data are presented as mean±sd, unless otherwise stated. CF: cystic fibrosis; P. aeruginosa: Pseudomonas aeruginosa; GWAS: genome-wide association study; CFTR: CF transmembrane conductance regulator; MF: minimal function; NA: not applicable. #: all individuals from CGMS who passed quality control; ¶: sample from CGMS for the GWAS of the first P. aeruginosa age, where individuals have insufficient pancreatic function and non-missing first P. aeruginosa age and are modulator-free; +: sample from CGMS for the GWAS of the chronic P. aeruginosa age, where individuals have insufficient pancreatic function and non-missing chronic P. aeruginosa age and are CF modulator-free; §: French sample for the validation analysis of the two genome-wide significant single nucleotide polymorphisms identified from the chronic P. aeruginosa age GWAS, where individuals have non-missing chronic P. aeruginosa age and insufficient pancreatic function and were born after 1 January 1991; ƒ: calculated by 1 November 2021 minus the date of the birth; ##: for the CGMS genotyped samples, 88.7% of individuals in the cohort were pancreatic insufficient; however, for the GWAS presented here of the first and chronic P. aeruginosa age, we only included individuals who were pancreatic insufficient.