Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis
Fig 4
Genetic architecture of age-of-onset of chronic P. aeruginosa infection and TMC6 rs34712518.
(A) Observed age of onset for children with at least one rs34712518 allele (blue) and without (red), compared to Weibull distribution models for age of onset among children with at least one rs34712518 allele (light blue) and without (green). (B) Blue: The probability of carrying at least one rs34712518 allele given age of onset is beyond age X (i.e. one does not have chronic P. aeruginosa infection by age X) based on the event probabilities for each carrier state shown in (A). The probability of being a carrier declines markedly between ages 6 and 25 among “survivors;” the more extreme (later) ages of onset have a growing difference in proportion of carriers compared to the general population (dotted red line), conferring greater power when included in the sample. Power provided by a single extreme vs. control design can be calculated from this plot, given the ages of the individuals in the single extreme.