Genetic susceptibilty and manifestation of progressive fibrosing interstitial lung diseases

Rationale: Aim of our study was to evaluate, if genetic background may be affected by age, at which manifestation of progressive fibrosis in HP and IPF occurred. Methods: 100 patients (55 IPF, 45 HP) with progressive fibrotic lung disease were enrolled into the study. IPF patients were regarded as progressive based on nature of IPF. Progressive HP was defined as decline of forced vital capacity (FVC) ˃10 % in 6 months period and progression of extent of fibrotic involvement on high resolution computed tomography (HRCT) declared by radiologist. Blood sample for DNA analysis was taken after enrollment into the study. The single nucleotide polymorphisms (SNPs) of IL-4, SFTPA and TAP were assessed by MALDI-TOF MS based MassARRAY (Agena Bioscience, San Diego, CA, USA) or TaqMan (Life Technologies, Carlsbad, CA). Student´s T-test and ANOVA were used for statistical analysis. Results: Table 1 shows investigated SNPs; genotype occurence observed; mean age of patients with common SNP and p values. Conclusions: Genetic background may modify manifestation of the disease. Our data show that lung fibrosis manifests earlier in patients with IL-4 SNP (rs2070874) CC genotype then in those with CT genotype ; and similarly in patients with SFTPA1 SNP (rs4253527) CT genotype then in those with CC genotype.