Comparisons of the CFTR mutation frequencies in the various phenotypic groups of family members and healthy controls
| Number of genotyped individuals | CFTR mutations | Number in affected individuals (frequency in the 2N chromosomes) | Allele frequency estimates accounting for relatedness | Number in healthy controls (frequency in the 2N=240 chromosomes) | OR | 95% CI | p Value |
|---|---|---|---|---|---|---|---|
| RA-DB (N=30) (24 families) | All mutations | 21 (0.350) | 0.329 | 22 (0.092) | 6.53 | 2.76 to 15.46 | 1.9×10−5 |
| A | 4 (0.067) | 0.077 | 5 (0.021) | 2.76 | 0.87 to 8.75 | 0.085 | |
| B | 6 (0.100) | 0.087 | 8 (0.033) | 2.93 | 0.98 to 8.71 | 0.053 | |
| C | 11 (0.183) | 0.164 | 9 (0.037) | 7.14 | 2.41 to 21.16 | 3.9×10−4 | |
| DB only (N=8) (6 families) | All mutations | 8 (0.500) | 0.500 | 22 (0.092) | 14.77 | 3.09 to 70.63 | 7.5×10−4 |
| A | 5 (0.312) | 0.308 | 5 (0.021) | 19.04 | 4.78 to 75.88 | 2.9×10−5 | |
| B | 1 (0.062) | 0.077 | 8 (0.033) | 2.00 | 0.19 to 20.51 | 0.559 | |
| C | 2 (0.125) | 0.115 | 9 (0.037) | 4.11 | 1.01 to 16.74 | 0.048 | |
| RA only (N=24) (17 families) | All mutations | 5 (0.104) | 0.109 | 22 (0.092) | 1.17 | 0.46 to 2.96 | 0.737 |
| A* | 0 (0.000) | 0.000 | 5 (0.021) | 0.73 | 0.00 to 5.56 | 0.590 | |
| B | 1 (0.021) | 0.026 | 8 (0.033) | 0.61 | 0.07 to 5.47 | 0.658 | |
| C | 4 (0.083) | 0.083 | 9 (0.037) | 2.47 | 0.84 to 7.25 | 0.101 | |
| Unaffected family members (N=76) (18 families) | All mutations | 19 (0.125) | 0.163 | 22 (0.092) | 1.39 | 0.54 to 3.58 | 0.489 |
| A | 7 (0.046) | 0.056 | 5 (0.021) | 2.33 | 0.50 to 10.78 | 0.278 | |
| B | 4 (0.026) | 0.017 | 8 (0.033) | 0.78 | 0.09 to 6.64 | 0.818 | |
| C | 8 (0.053) | 0.091 | 9 (0.037) | 1.45 | 0.50 to 4.21 | 0.493 |
↵* Use of exact conditional logistic regression.
See text for classification of CFTR mutations.
RA, rheumatoid arthritis; DB, diffuse bronchiectasis; RA-DB, RA-associated DB.