NOD-2基因多态性与儿童吉兰-巴雷综合征的相关性研究

Association between polymorphism of NOD-2 and susceptibility of Guillain-Barre syndrome in children

目的探讨陕西延安地区汉族儿童中,NOD2基因多态性与吉兰-巴雷综合征(GBS)易感性的关系。方法选择2014年1月-2018年3月于陕西省延安大学附属医院儿科住院治疗的126例GBS患儿作为GBS组,并按照临床及电生理特点分为急性炎性脱髓鞘性多发神经病(AIDP)和急性运动轴索性神经病(AMAN)两个亚组。同时选择同期体检的健康儿童120例作为对照组,采用聚合酶链反应-限制性片段多态性法检测NOD-2基因P268S和JW1位点多态性。结果GBS组P268S位点中突变基因型(CT)和等位基因(T)频率均显著高于对照组(P=0.012;P=0.013);亚组分析显示,AMAN组P268S位点中突变基因型(CT)和等位基因(T)频率也显著高于对照组(P=0.007;P=0.007);AIDP组P268S位点中突变基因型(CT)和等位基因(T)频率分布差异无统计学意义(均P>0.05)。P268S位点基因多态性与GBS患者性别、年龄、GBS分型,病情严重程度及预后均无显著相关性(均P>0.05)。本次研究GBS组与对照组NOD-2基因JW1位点仅存在纯合野生型(CC),未见突变基因。结论 NOD-2基因P268S多态性与陕西省延安地区儿童GBS遗传易感性相关。

Objective To investigate the genetic association between NOD-2 gene polymorphism and susceptibility to children Guillain-Barre syndrome(GBS) in the Han descent population in the Shaanxi province.Method 126 children with GBS from January 2014 to March 2018 were recruited to participate in the study as the GBS group.According to clinical manifestation and electrophysiological characteristics,they were divided into acute inflammatory demyelinating polyneuropathy(AIDP) group and acute motor axonal neuropathy(AMAN) group.120 healthy volunteers without GBS were randomly selected in the same period of time as the control group.Genotype was determined by polymerase chain reactionrestriction fragment length polymorphism for the polymorphism of the NOD-2 gene.Results Mutation genotype and allele frequencies of NOD-2(P268 S) gene in GBS group were significantly higher than them in control group(P=0.012,P=0.013).Meanwhile,a significant association was found between P268 S gene polymorphism and AMAN.However,there was no significant difference in the fequencies of genotype and allele of P268 S between AIDP group and control group(both P>0.05).For patients in GBS group,no statistically significant correlation was found between P268 S gene polymorphism and gender,age,GBS subtype,disease severity and prognosis.JW1 polymorphisms of the NOD-2 gene were not found in any groups.Conclusion Polymorphism of the NOD-2(P268 S) gene was associated with the susceptibility of GBS.