NOD1基因多态性与儿童吉兰-巴雷综合征的相关性研究

目的 探讨陕西地区汉族儿童中,NOD1基因多态性与吉兰-巴雷综合征(Guillain-Barre syndrome,GBS)易感性的关系.方法 选择201 3年1月至201 6年10月治疗的1 12例GBS患儿作为GBS组,同时随机选择同期体检的健康儿童110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-1基因rs2075820和rs7789045位点多态性.结果 rs2075820位点多态性在显性模型、隐性模型和等位基因模型下与儿童GBS易感性相关(P=0.013、P=0.016、P=0.005).将GBS组分为不同亚型,rs2075820位点多态性在隐性模型和等位基因模型下与急性炎性脱髓鞘性多发神经病(acute inflammatory demyelinating polyneuropathy,AIDP)易感性相关(P=0.018、P=0.015);在显性模型、隐性模型和等位基因模型下与急性运动轴索性神经病(acute motor axonal neuropathy,AMAN)易感性相关(P=0.024、P=0.004、P=0.002);rs2075820位点多态性在各模型下均与急性运动感觉轴索性神经病(acute motor-sensory axonal neuropathy,AMSAN)易感性无关(均P＞0.05).rs7789045位点多态性在各模型下与儿童GBS及各亚型易感性均无关(均P＞0.05).rs2075820和rs7789045多态性与病情严重程度和预后均无显著相关性.结论 NOD-1基因rs2075820多态性与GBS遗传易感性相关.

Association between polymorphism of NOD-1 and susceptibility of Guillain-Barre syndrome in children

Objective To investigate the genetic association between NOD-1 gene polymorphism and susceptibility to children Guillain-Barre Syndrome (GBS) in the Han descent population in Shaanxi province.Methods During January 2013 to October 2016,112 children with GBS were recruited to participate in the study as the GBS group;110 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 detection of the polymorphism of the NOD-1 gene.Results Rs2075820 gene polymorphism exhibited strong correlation with children GBS in dominant model,recessive genetic model and allele model (P =0.013;P =0.016;P =0.005).In GBS subgroups,there was significant association between rs2075820 gene polymorphism and acute inflammatory demyelinating polyneuropathy (AIDP) in dominant and allele model (P =0.018;P =0.015).Meanwhile,a significant association was found between rs2075820 gene polymorphism and acute motor axonal neuropathy (AMAN) in dominant model,recessive genetic model and allele model (P =0.024;P =0.004;P =0.002).No statistically significant correlation was found between rs2075820 gene polymorphism and acute motor-sensory axonal neuropathy (AMSAN) in any of these models.Rs7789045 gene polymor phism showed no statistically significant correlation with GBS and its subtypes in any model.For children with GBS,polymorphism of NOD-1 was not related to disease severity and prognosis.Conclusion Polymorphism of the NOD-1 (rs2075820) gene was associated with the susceptibility of GBS.