Table 3.
Frequency distribution of rs504348
| Parameter | Genotype | HWE p-Value | p-Value3 | ||
|---|---|---|---|---|---|
| CC | CG | GG | |||
| Populations 1 | n (%) | ||||
| Global population | 360 (14.4%) | 658 (26.3%) | 1486 (59.3%) | <0.0001 | -- |
| CEU | 6 (6.1%) | 22 (22.2%) | 71 (71.7%) | <0.03 | -- |
| Study cohort | 8 (8.6%) | 24 (25.8%) | 61 (65.6%) | <0.03 | -- |
| ESCF Disease Severity Classification | n (%) | >0.17 | |||
| Normal/very mild | 5 (5.4%) | 9 (9.7%) | 30 (32.3%) | -- | |
| Mild | 1 (1.1%) | 3 (3.2%) | 6 (6.5%) | -- | |
| Moderate | 0 (0%) | 1 (1.1%) | 6 (6.5%) | -- | |
| Severe | 2 (2.2%) | 3 (3.2%) | 14 (15.1%) | -- | |
| Uncharacterized 2 | 0 (0%) | 8 (8.6%) | 5 (5.4%) | -- | |
| Pancreatic Status | n (%) | >0.14 | |||
| Pancreatic insufficient | 5 (5.4%) | 15 (16.1%) | 49 (52.7%) | -- | |
| Pancreatic sufficient | 3 (3.2%) | 9 (9.7%) | 12 (12.9%) | -- | |
| P. aeruginosa | n (%) | >0.89 | |||
| Positive | 4 (4.3%) | 14 (15.1%) | 36 (38.7%) | -- | |
| Negative | 4 (4.3%) | 10 (10.8%) | 25 (26.9%) | -- | |
| Mucoid P. aeruginosa | n (%) | >0.31 | |||
| Positive | 4 (4.3%) | 10 (10.8%) | 18 (19.4%) | -- | |
| Negative | 4 (4.3%) | 14 (15.1%) | 43 (46.2%) | -- | |
HWE: Hardy–Weinberg equilibrium; ESCF: Epidemiologic Study of Cystic Fibrosis; --: not applicable. 1 Global population and CEU (Utah residents with Northern and Western European ancestry) adopted from 1000 Genomes Project (http://www.ensembl.org). 2 The uncharacterized group consisted of CF patients less than 6 years old or have no FEV1 (%) predicted values. 3 p-value estimated using Fisher’s Exact tests.