Genetic mutations and polymorphisms of axon guidance factors in the development of human retinopathy of prematurity

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Among axon guidance factors, we focused on erythropoietin (EPO), and investigated correlation between the development of retinopathy of prematurity (ROP) and allele A frequency of rs1617640, which was a single nucleotide polymorphism in the promoter area of EPOgene. Forty-four neonates with ROP and 62 non-ROP neonates born before 32 weeks of gestations were examined. There were no significant differences in allele A frequency and genotype frequency between the groups. A logisticmultiple regression analysis revealed that supplementation of human recombinant EPO was a risk factor for the development of ROP. Exogenous EPO, not endogenous EPO seems to be a risk factor for the development of ROP.