Erythropoietin Gene Polymorphism rs551238 is Associated with a Reduced Susceptibility to Brain Injury in Preterm InfantsJi Xu, Huitao Li, Jinjie Huang, Zhangxing Wang, Yun Li, Chuanzhong Yang, Benqing Wu, Lihui Liu, Qi Kong, Jianlin Huang, Wenlan Liu, Xiufeng Ye and Guangfu Chen*" /> Erythropoietin Gene Polymorphism rs551238 is Associated with
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Erythropoietin Gene Polymorphism rs551238 is Associated with a Reduced Susceptibility to Brain Injury in Preterm Infants

[ Vol. 16 , Issue. 4 ]

Author(s):

Ji Xu, Huitao Li, Jinjie Huang, Zhangxing Wang, Yun Li, Chuanzhong Yang, Benqing Wu, Lihui Liu, Qi Kong, Jianlin Huang, Wenlan Liu, Xiufeng Ye and Guangfu Chen*   Pages 335 - 339 ( 5 )

Abstract:


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 ā€œCā€ 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.

Keywords:

Erythropoietin Gene Polymorphism rs551238 is Associated with a Reduced Susceptibility to Brain Injury in Preterm Infants

Affiliation:

The Central Laboratory and Medical Genetics & Molecular Diagnostic Center, The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen Second People's Hospital, Shenzhen 518035, Department of Neonatology, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen 518017, Department of Neonatology, Shenzhen People's Hospital, Shenzhen 518001, Department of Neonatology, Shenzhen Longhua People's Hospital, Shenzhen 518109, The Central Laboratory and Medical Genetics & Molecular Diagnostic Center, The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen Second People's Hospital, Shenzhen 518035, Department of Neonatology, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen 518017, Department of Neonatology, Shenzhen People's Hospital, Shenzhen 518001, Department of Pediatrics, Shenzhen Second People's Hospital, Shenzhen 518035, Department of Pediatrics, Shenzhen Second People's Hospital, Shenzhen 518035, The Central Laboratory and Medical Genetics & Molecular Diagnostic Center, The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen Second People's Hospital, Shenzhen 518035, The Central Laboratory and Medical Genetics & Molecular Diagnostic Center, The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen Second People's Hospital, Shenzhen 518035, The Central Laboratory and Medical Genetics & Molecular Diagnostic Center, The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen Second People's Hospital, Shenzhen 518035, Department of Pediatrics, Shenzhen Second People's Hospital, Shenzhen 518035



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