The mutation is located in exon 3, a putative site of the ligand-binding V domain of AGER, and modifies RAGE ligand-binding structure and affinity for ligands.11,12 Taking the evidence together, rs2070600 seems to alter RAGE function, leading to reduced serum sRAGE in CPFE, confirming a genetic role in the pathogenesis of pulmonary fibrosis in CPFE. This evidence concerns the gene AGER and combined pulmonary fibrosis-emphysema syndrome.