HLA-DQA1基因多态性与视神经脊髓炎的相关性研究  

Association between neuromyelitis optica and HLA-DQA1 gene polymorphisms

作　　者：周莉莉[1] 朱师国 黄诗诗 朱兰兵[1] 王建勇[1] 张雄[1] 何志勇[1] ZHOU Lili;ZHU Shiguo;HUANG Shishi;ZHU Lanbing;WANG Jianyong;ZHANG Xiong;HE Zhiyong(Department of Neurology,the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University,Wenzhou 325027,China)

机构地区：[1]温州医科大学附属第二医院神经内科,325027

出　　处：《浙江医学》2021年第10期1075-1079,I0006,共6页Zhejiang Medical Journal

基　　金：温州市科技计划项目(2018Y0597)。

摘　　要：目的研究人类白细胞抗原基因易感区域(HLA-DQA1)基因多态性与汉族人群视神经脊髓炎(NMO)的相关性,探讨NMO的发病机制,为早期诊断及治疗提供帮助。方法选择2015年1月至2020年5月就诊于温州医学院附属第二医院脱髓鞘专病门诊的NMO确诊患者(NMO患者组)51例,根据血清水通道蛋白4-IgG(AQP4-IgG)是否阳性,分为AQP4-IgG阳性亚组43例,AQP4-IgG阴性亚组8例。另选择同期健康体检者86例作为健康对照组。分析比较两亚组患者的临床资料,包括性别、年龄、发病年龄、扩展残疾状况评分、首发症状、合并免疫系统疾病及MRI表现。进一步采用病例对照研究,通过PCR、基因测序等方法分析rs28383224与NMO遗传易感性的相关性。结果AQP4-IgG阳性亚组和AQP4-IgG阴性亚组性别、年龄、发病年龄、扩展残疾状况评分、首发症状、合并免疫系统疾病及MRI表现等方面差异均无统计学意义(均P>0.05)。在NMO患者组中,rs28383224多态性位点的基因型(AA14、AG24、GG13)和等位基因(A52、G50)较健康对照组的基因型(AA18、AG50、GG18)和等位基因(A86、G86)分布差异均无统计学意义(均P>0.05)。该位点单核苷酸多态性与NMO发生风险无关联(AG比AA:OR=1.028,95%CI:0.371~2.848;GG比AA:OR=0.672,95%CI:0.283~1.599,均P>0.05)。结论汉族人群中HLA-DQA1的rs28383224位点单核苷酸多态性与NMO的发生未见显著关联性。Objective To investigate the relationship between HLA-DQA1 gene polymorphism and neuromyelitis optica(NMO)in Han Chinese.Methods Fifty one NMO patients admitted in the Second Affiliated Hospital of Wenzhou Medical University from January 2015 to May 2020 were enrolled in the study.There were 43 cases with positive serum AQP4-IgG and 8 cases with negative serum AQP4-IgG.Eighty six healthy controls were recruited in our study in the same period.The gender,age,age of onset,extended disability status score,first clinical manifestations,complicated immune system disease,and MRI manifestations were compared between two groups.The genotypes of HLA-DQA1 gene rs28383224 were detected in NMO patients,and its roles in NMO was assessed under dominant,recessive and additive model.Results There were no significant differences in gender,age,age of onset,extended disability status score,clinical manifestations,complicated immune system disease,and MIR manifestations between the AQP4-IgG positive and the AQP4-IgG negative groups(all P>0.05).Our genetic analysis showed that there were no significant differences in the distribution of genotypes(AA 14,AG 24,GG 13)and alleles(A52,G50)of the rs28383224 in NMO group,compared with the genotypes(AA 18,AG 50,GG18)and alleles(A86,G86)in control group(P>0.05).The rs28383224 displayed no association with NMO phenotypes or clinical manifestation(AG vs AA,OR=1.028,95%CI:0.371~2.848;GG vs AA,OR=0.672,95%CI:0.283~1.599,all P>0.05).Conclusion No evidence shows that the HLA-DQA1 gene rs28383224 polymorphisms are associated with the risk of neuromyelitis optica in Hand Chinese in the current study.

关 键 词：视神经脊髓炎 HLA-DQA1 rs28383224 多态性 疾病遗传易感性 

分 类 号：R744.52[医药卫生—神经病学与精神病学]