Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Even stronger results were obtained when the analysis of F508del -CFTR homozygotes was restricted to the individuals with self-declared European ancestry and adjusted for PCs (n = 286) (p = 0.0087; HR = 0.35, 95%CI = [0.16–0.77]) ( S2 Table ), but the difference in HR among the F508del-CFTR homozygous group and remaining individuals did not reach statistical significance (p = 0.13).

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aeruginosa in children with CF [ 13 ], [ 14 ], and nominally significant associations between age-of-onset of chronic P . aeruginosa infection have been reported recently for other lectin pathway genes: FNC1 , FNC2 and MASP3 [ 15 ].

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A highly significant difference in minor allele frequency is found for children with both mutations in functional classes I or II (MAF = 0.31) compared to those with mutations that are not both in functional classes I or II (MAF = 0.18; p = 0.00027).

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