Surfactant proteins A and D nucleotide variants: association with retinal vascular disease

Retinopathy of Prematurity (ROP) stems from disrupted angiogenesis. Surfactant protein A (SP-A) impacts retinal vascular disease, but associations between genetic polymorphisms of surfactant proteins (SPs) and ROP are unknown. We report novel surfactant protein polymorphisms and ROP. The risk of ROP modeled by controlling for gestational age (GA) and oxygen suggests novel direct effects on endothelial function and angiogenesis. The resultant amino acid substitutions were mapped to predict translational protein modifications. As SNPs alter amino acid structure, protein folding, and functionality, our results provide critical mechanistic clues for vascular diseases of prematurity. Mapping of genetic signatures enables earlier detection of ROP.