Table 1 Characteristics of patients enrolled in GWAS2 and GWAS1 by the International Cystic Fibrosis Gene Modifier Consortium.
Age (years) | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
Lead Institution(s) | Design | Subjects n | Mean (±s.d.) | Range | Male n (%) | European* n (%) | p.Phe508del/p.Phe508del n (%) | Pancreatic exocrine insufficient n (%) | Subjects identified by NBS n (%) | |
GWAS2 | ||||||||||
French CF Gene Modifier Consortium (FrGMC) | University of Pierre and Marie Curie, Inserm U938 | Population based | 1,222 | 21.0 (9.2) | 6.0–57.6 | 627 (51.3) | 1,211 (99.1) | 716 (58.6) | 1,222 (100.0) | 63 (5.2) |
Genetic Modifier Study (GMS) | University of North Carolina/ Case Western Reserve University | Extremes of phenotype | 469 | 25.8 (10.9) | 7.9–62.2 | 256 (54.6) | 407 (86.8) | 191 (40.7) | 467 (99.6) | 3 (0.01) |
Population-based† | 357 | 20.3 (10.0) | 6.6–60.2 | 191 (53.5) | 336 (94.1) | 214 (59.9) | 357 (100.0) | 137 (38.4) | ||
Canadian Consortium for Genetic Studies (CGS) | Hospital for Sick Children | Population based‡ | 285 | 13.0 (7.6) | 6.4–40.0 | 150 (52.6) | 268 (94.0) | 189 (66.3) | 282 (98.9) | 0 (0.0) |
Twins and Sibs Study (TSS) | Johns Hopkins University | Family based and population based§ | 588 | 15.8 (10.3) | 6.0–56.0 | 305 (51.9) | 533 (90.6) | 315 (53.6) | 583 (99.1) | 54 (9.2) |
Summary GWAS2 | 2,921 | 19.9 (10.4) | 6.0–62.2 | 1,529 (52.3) | 2,755 (94.3) | 1,625 (55.6) | 2,911 (99.7) | 257 (8.8) | ||
GWAS1 | ||||||||||
Summary GWAS1|| | 3,444 | 19.2 (8.5) | 6.0–56.0 | 1,839 (53.4) | 3,324 (96.5) | 2,514 (73.0) | 3,444 (100.0) | 84 (2.4) | ||
GWAS1+2 | ||||||||||
Summary GWAS1+2 | 6,365 | 19.5 (9.4) | 6.0–62.2 | 3,368 (52.9) | 6,079 (95.5) | 4,139 (65.0) | 6,355 (99.8) | 341 (5.4) | ||
