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Abstract
Asthma is caused by immune response to environmental stimuli, an effect in which there is airway remodelling. When individuals come in contact with stimuli, their bronchi become inflamed. The inflammatory response is triggered by a chain reaction initiated by several effector molecules. One of these molecules is cathepsin C (CTSC). A mutation within this gene could provide protection against the inflammatory response. Three hundred forty one families, each with at least two siblings with asthma were genotyped for two CTSC polymorphisms (rs217086 (T153I) AND rs3888798 (I453V)) using high resolution melting curve analysis. Genetic association analysis was analysed using family based association tests (FBAT) and resultant called genotypes were sequenced. DNA sequence data confirmed all variant genotypes. Analysis by FBAT showed no significant association between any polymorphisms and asthma susceptibility or with any of asthma-related phenotypes tested. This study failed to confirm a substantial role of the T153I and I453V, CTSC polymorphisms in the genetic predisposition for atopic asthma in a large UK family-based asthma cohort