新生儿坏死性小肠结肠炎遗传多态性研究进展

Progress of genetic polymorphisms in neonatal necrotizing enterocolitis

新生儿坏死性小肠结肠炎（neonatal necrotizing enterocolitis，NEC）仍是新生儿期发病率和病死率较高的疾病，其病因目前尚不十分明确。炎症级联反应、先天性免疫及肠道血流动力学改变等在NEC发病机制中有重要作用。单核苷酸多态性是指DNA序列中单个碱基发生的变异，它可能通过改变转录效率或其所编码的分子的结构而与疾病相关联。该文就NEC相关因子如炎症因子、Toll样受体信号通路、甘露糖结合凝集素、血管内皮生长因子、氨甲酰磷酸合成酶、血管紧张素转换酶等的单核苷酸多态性研究作一综述。

Neonatal necrotizing enterocolitis （NEC） is still a disease with high mortality and morbidity in neonates. The pathogenesis of NEC is not quite clear. Inflammatory cascade,innate immune response and in- testinal blood flow are thought to play significant roles in the machinism of NEC. Single nuleotide polymorphism （SNP） is characterized by single nucleotide mutation in the genecome consequences. They may alter the suscep- tibility to some kinds of diseases by changing the efficiency of transcription or the structure of protein coded by the related gene. This review summarizes the progress of the research on genetic polymorphisms in neonatal ne- crotizing enterocolitis.