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目的:探讨促红细胞生成素(erythropoietin，EPO)基因多态性与早产儿脑损伤的关系。方法:前瞻性选择2014年10月至2015年9月深圳市第二人民医院、深圳市妇幼保健院、深圳市人民医院和龙华区人民医院新生儿科收治的胎龄28～34周早产儿为研究对象，根据头颅B超和MRI检查结果分为脑损伤组和对照组，酶联免疫吸附法检测血清EPO水平，质谱分析检测EPO基因多态性，比较EPO基因rs1617640、rs551238和rs507392共3个位点基因型频率分布差异，分析各基因型和等位基因发生脑损伤的风险。结果:共纳入304例，脑损伤组135例，对照组169例，两组患儿性别、胎龄、出生体重差异无统计学意义(n P>0.05)。EPO基因rs1617640位点GT基因型患儿血清EPO水平低于GG、TT基因型患儿(n P<0.05)；rs507392位点CT基因型患儿血清EPO水平低于CC、TT基因型(n P0.05)。脑损伤组rs1617640位点GT基因型比例高于对照组(n P＝0.050)；rs551238位点AA基因型比例高于对照组(n P0.05)。n 结论:EPO基因rs1617640位点GT基因型、rs507392位点CT基因型患儿血清EPO水平较低；rs551238位点AA基因型可能是早产儿脑损伤的易感基因型，rs551238位点A等位基因可能是早产儿脑损伤的易感基因。“,”Objective:To study the relationship between erythropoietin (EPO) gene polymorphism and brain injury in premature infants.Method:From October 2014 to September 2015, premature infants (gestational age between 28 weeks and 34 weeks) admitted to four hospitals were prospectively recruited. The diagnosis of brain injury was confirmed using cranial ultrasound and brain MRI. Infants diagnosed with brain injuries were assigned into brain injury group and infants without brain injuries were assigned into control group. Serum levels of EPO were measured using enzyme linked immunosorbent assay (ELISA) method. The polymorphism of EPO gene was detected using matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). The genotype frequencies (rs1617640, rs551238 and rs507392 of the EPO gene) and the differences in the distribution of allele frequencies between the two groups were compared.Result:A total of 304 premature infants were recruited, including 135 cases in the brain injury group and 169 cases in the control group. The EPO levels of carriers with rs1617640 GT genotype were significantly lower than GG and TT genotypes(n P<0.05), the EPO levels of carriers with rs507392 CT genotype were significantly lower than CC and TT genotypes(n P0.05). The frequency of rs1617640 GT genotype in the brain injury group showed no significant difference than the control group (n P=0.050). The frequency of rs551238 AA genotype and allele A in the brain injury group were significantly higher than the control group (n P0.05).n Conclusion:Preterms with rs1617640 GT genotype, rs507392 CT genotype have lower EPO levels. rs551238 AA genotype and the allele A of rs551238 may be high-risk genotypes for premature infants' brain injuries.