SFTPA mutations in interstitial lung disease (ILD) and lung cancer

Background: The surfactant protein A (SP)-A is a collectin implicated in surfactant homeostasis, local alveolar immune response, and epithelial repair after lung injury. SP-A is encoded by the SFTPA1 and SFTPA2 genes. The aim of this study was to search for mutations in SFTPA1 and SFTPA2 in adult patients with ILD. Methods: All SFTPA1 and SFTPA2 exons and flanking intronic sequences were analyzed in a large prospective study population of 160 apparently unrelated ILD patients with no telomerase, SFTPC or ABCA3 mutations. Results: 86 patients were diagnosed with a familial form of ILD, of whom 20 presented an association with a familial lung cancer. 63 patients were Discussion and conclusion: Altered SP-A expression may contribute to ILD pathophysiology. Data reported herein indicate that patients with ILD and a personal or familial lung cancer, and/or