Table 4

Comparisons of CFTR mutation frequencies in the different groups of family members and in unaffected relatives

Phenotype (number of affected/unaffected)CFTR mutationsFrequency in affected individualsaccounting for relatednessFrequency in unaffected individualsaccounting for relatednessOR95% CIp Value
RA-DB (30/76)All mutations0.3290.1633.421.50 to 7.790.003
A0.0770.0561.410.79 to 2.520.247
B*0.0870.0173.520.73 to 16.810.115
C0.1640.0914.921.86 to 13.020.001
DB only (8/76)All mutations0.5000.1634.912.35 to 10.262.3×10−5
A0.3080.0569.143.75 to 22.251.1×10−6
B0.0770.0172.570.91 to 7.230.867
C0.1150.0912.830.56 to 14.410.210
RA only (24/76)All mutations0.1090.16310.42 to 2.361.000
A*0.0000.0560.310 to 2.170.191
B0.0260.0170.780.04 to 13.820.867
C0.0830.0912.240.97 to 5.140.058
  • * Use of exact logistic regression.

  • See text for classification of CFTR mutations.

  • RA, rheumatoid arthritis; DB, diffuse bronchiectasis; RA-DB, RA-associated DB.