关键词: 内皮型一氧化氮合成酶, 多态性, 单核苷酸, 婴儿, 早产, 汉族

Abstract: Objective　To examine the association of gene polymorphisms of nitric oxide synthase（NOS） in endothelial cells of umbilical cord vessels and major complications among Han premature infants of ≤34 weeks' gestational age in Xinxiang.Methods　This study was conducted in a cohort of preterm infants（n=231） with a gestational age of ≤34 weeks delivered in Xinxiang Central Hospital from February 2014 to December 2016.Allele and genotype frequencies at 3 single nucleotide polymorphisms（rs2070744，rs1799983 and rs61722009） of eNOS in endothelial cells of umbilical cord vessels（extracted at the delivery）.We collected the clinical data of the preterm infants.The association of gene polymorphisms of eNOS with the development of bronchopulmonary dysplasia（BPD），necrotizing enterocolitis（NEC），stage Ⅲ-Ⅴ retinopathy（ROP），stage Ⅲ-Ⅳ periventricular-intraventricular hemorrhage（PIVH），neonatal respiratory distress syndrome（RDS） requiring mechanical ventilation（MV） and death.Results　The frequency of C allele of rs2070744 polymorphism，and T allele of rs1799983 polymorphism was 0.145，0.188，respectively，which was similar to that proposed in the studies collected in Ensembl genome database（χ2=0.875，P=0.646；χ2=3.541，P=0.173）.The a allele of rs61722009 polymorphism was identified to be 0.159.Univariate analysis found that rs2070744 TC+CC genotypes（crude OR=0.370，P=0.003） and rs1799983 GT+TT genotypes（crude OR=0.484，P=0.030） were associated with the development of BPD.Multivariate Logistic regression analysis revealed that rs2070744 TC+CC genotypes were independent risk factors for BPD（OR=1.875，P=0.020），and synchronized appearance of rs61722009 aa+ab and rs1799983 GT+TT genotypes were independent risk factors for stage Ⅲ-ⅤROP（OR=2.961，P=0.041）.Conclusion　The eNOS gene polymorphisms are associated with the major complications of Han preterm infants in Xinxiang.Genotyping may be helpful to identify patients with higher risk of BPD and stage Ⅲ-ⅤROP.

Key words: Endothelial nitric oxide synthase；Polymorphism, single nucleotide；Infant, premature；Han nationality