Background: Single Nucleotide Polymorphisms (SNPs) in the Erythropoietin (EPO)
promoter region have been shown to influence EPO protein expression, and high blood levels of
EPO are associated with an increased risk of brain injury in very preterm infants. Here, we investigated
the genotype distributions and association of three EPO gene polymorphisms (rs1617640,
rs551238, and rs507392) with the risk of brain injury in preterm infants.
Methods: 304 preterm infants with a gestational age of 28 to 34 weeks were enrolled in this study.
Brain injury was evaluated by brain ultrasound and MRI examination. EPO gene Single-
Nucleotide Polymorphisms (SNPs) were genotyped by the Agena MassARRAY system, and their
association with brain injury susceptibility in preterm infants was analyzed.
Results: EPO polymorphism rs551238 showed a significant difference in the genotypic distributions
between the brain injury group and the control group, and was significantly correlated with
reduced susceptibility to brain injury in preterm infants according to the results obtained from both
the additive model (OR = 0.520, 95% CI: 0.339-0.799, P = 0.003) and the dominant model (OR =
0.523, 95% CI: 0.332-0.853, P = 0.009). EPO polymorphisms rs1617640 and rs507392 did not
meet the Hardy-Weinberg equilibrium in the study population (P < 0.05) and were, thus, not subjected
to further analysis for their impacts on brain injuries.
Conclusion: The “C” allele of rs551238 was correlated with a reduced risk of brain injury in preterm
infants which may serve as a potential marker for brain injury prediction in preterm infants.