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目的探讨MD-2和GM2A基因多态性与新生儿坏死性小肠结肠炎(NEC)的关系。方法选择2011年6月至2012年5月本院确诊为Ⅱ期及Ⅱ期以上NEC的新生儿(NEC组),用基因测序方法对MD-2、GM2A基因外显子及位于MD-2基因启动子区的rs11465996位点进行重测序,检测基因多态性,并将功能性多态位点与同期非NEC新生儿(对照组)进行比较。结果 NEC组共纳入42例,对照组共纳入83例。MD-2基因外显子区域未检测到频率异常的多态性位点;NEC手术组rs11465996位点(MD-2启动子区)携带低频等位基因(G)的基因型频率显著高于对照组(55.0%比30.1%),NEC组rs1048719位点(GM2A基因1号外显子)及rs2075783位点(GM2A基因内含子)携带低频等位基因(分别为A、C)的基因型频率显著高于对照组(分别为38.1%比20.5%、42.9%比13.3%),差异均有统计学意义(P<0.05)。结论 MD-2基因启动子区域的rs11465996多态性与NEC严重程度有关;GM2A基因1号外显子的rs1048719多态性及内含子区域的rs2075783多态性与NEC发生有关。
Objective To investigate the relationship between MD-2 and GM2A gene polymorphisms and neonatal necrotizing enterocolitis (NEC). Methods Neonates (NEC group) with stage Ⅱ and advanced NEC diagnosed in our hospital from June 2011 to May 2012 were enrolled in this study. The exon of MD-2 and GM2A genes and the expression of MD-2 gene Rs11465996 locus in the promoter region was re-sequenced to detect genetic polymorphisms, and functional polymorphic loci were compared with non-NEC newborns (control group) in the same period. Results A total of 42 cases were included in the NEC group and 83 cases in the control group. The frequency of polymorphism was not detected in exon of MD-2 gene. The genotype frequency of rs11465996 (MD-2 promoter) carrying low frequency allele (G) in NEC group was significantly higher than that of control Group (55.0% vs. 30.1%), genotype frequency of rs1048719 (GM2A gene exon 1) and rs2075783 (GM2A intron) of NEC group carrying low frequency alleles (A and C respectively) Higher than the control group (38.1% vs. 20.5%, 42.9% vs. 13.3%, respectively), the difference was statistically significant (P <0.05). Conclusion The rs11465996 polymorphism of MD-2 gene promoter region is related to the severity of NEC. The rs1048719 polymorphism of exon 1 of GM2A gene and the rs2075783 polymorphism of intron region are associated with the occurrence of NEC.