Table 1.
Characteristics of cystic fibrosis (CF) individuals across the discovery (Canadian GMS; CGS) and the validation (French GMS; FGMS) data set.
| Variable | Canadian GMS (n = 1,958) | French GMS (n = 1,003) |
|---|---|---|
| CFRD (cases) | 619 (31.6%) | 374 (37.3%) |
| Sex (females) | 926 (47.3%) | 480 (47.9%) |
| Meconium ileus | 334 (17.1%) | 141 (14.1%) |
| Newborn screened | 58 (3.0%) | 415 (42.5%)a |
| CFTRvariant score | ||
| 5 | 51 (2.6%) | 14 (1.4%) |
| 4 | 389 (19.9%) | 201 (20.0%) |
| 3 | 1185 (60.5%) | 667 (66.5%) |
| 2 | 170 (8.7%) | 68 (6.8%) |
| 1 | 163 (8.3%) | 53 (5.3%) |
| Age cohort (year of birth) | ||
| 1970s | 336 (17.2%) | 128 (12.8%) |
| 1980s | 634 (32.4%) | 317 (31.6%) |
| 1990s | 737 (37.6%) | 392 (39.1%) |
| After 2000 | 251 (12.8%) | 166 (16.6%) |
Individuals enrolled in the FGMS are less likely to carry a mild CFTR pathogenic variant compared with participants in the CGS.
CFRD cystic fibrosis–related diabetes, GMS Gene Modifier Study.
aTwenty-seven French GMS individuals were missing information for newborn screening. A higher proportion of French individuals were newborn screened since nationwide newborn screening was implemented in France in 200237, earlier than that in all Canadian provinces and territories.