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

在轴突导向因子中，我们以促红细胞生成素（EPO）为研究对象，探讨EPO基因启动子区rs1617640等位基因A频率与早产儿视网膜病变（ROP）发生的相关性。对44例ROP新生儿和62例妊娠32周前出生的非ROP新生儿进行了检查。A等位基因频率和基因型频率在各组间差异无统计学意义。Logistic多元回归分析显示，补充重组人EPO是ROP发生的危险因素。外源性EPO而非内源性EPO可能是ROP发生的危险因素。

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.