Nogo及雌激素受体基因多态性与多发性硬化的研究  

The Relationship between Nogo and Estrogen Receptor Gene Polymorphism and Multiple Sclerosis

作　　者：孟丽红[1] 胡登科[2] 杨昆胜[2] 

机构地区：[1]昆明医科大学第六附属医院,云南玉溪653100 [2]昆明医科大学第一附属医院神经内科,云南昆明650000

出　　处：《昆明医科大学学报》2012年第10期88-92,共5页Journal of Kunming Medical University

摘　　要：目的分析Nogo基因和雌激素受体多态性在多发性硬化的分布特点,探讨上述基因多态性与云南多发性硬化患者发病的相关性.方法分别采用聚合酶链式反应(PCR)分析方法和限制性片段长度多态性聚合酶链式反应(PCR-RFLP)分析方法,分析47例MS患者及47例健康对照者的Nogo基因3'端未编码区CAA插入/缺失突变的基因型和等位基因频率及雌激素受体(estrogen receptor,ER)α基因PvuⅡ、XbaⅠ酶切多态性的分布,采用SPSS软件分析上述基因多态性与MS的关系.结果 MS组的NogoDel型等位基因频率和ER PvuⅡ大P等位基因频率明显高于对照组,经χ2检验2组间分布差异有统计学意义(P<0.05).对Nogo及ER等位基因进行Logistics回归分析,ER PvuⅡ小P等位基因,与MS发生成负相关,相关系数为-1.670(P=0.013),发生MS相对危险度的95%可信区间为0.050～0.704,NogoIns型等位基因,与MS发生成负相关,相关系数为-1.248(P=0.013),发生MS相对危险度的95%可信区间0.087～0.948.结论 Nogo基因3'端未编码区CAA缺失突变可能是云南汉族人群患MS后不易缓解的危险因素之一,而Nogo基因3'端未编码区CAA插入突变可能是云南汉族人群患MS后易修复的因素之一;ER PvuⅡ大P可能是云南汉族人群易感MS的的危险因素之一.Objectives To find the the association of Nogo and estrogen receptor gene polymorphism with multiple sclerosis.Methods（1）The blood samples prepared from 47 MS patients and 47 normal person who were matched in age,sex and ethnic were used in this study.（2）To identify the Nogo 3 UTR CAA insertion/deletion polymorphism,polymerase chain reaction（PCR）and polyacrylamide gel electrophoresis were employed.（3）To explore PvuⅡand XbaI restriction fragment length polylmorphism of estrogen receptor（ER） gene,polymerase chain reaction-restriction fragment length polylmorphism（PCR-RFLP）method was used.（4） Data analysis was performed using SPSS.Results Significant difference in Nogo 3 UTR CAA insertion/deletion allele frequencies was observed between the patients with multiple sclerosis and control（P〈0.05）.The gene polymorphism of Nogo and ER were also analyses using Logistics Regression,the results showed that ER PvuⅡ p allele was negatively associated with MS,the correlation coefficient was-1.670（P=0.013）with 95% confidence interval between 0.050 and 0.704.And Nogo Insert alletic gene was also negative associatied with MS,correlation coefficient was-1.248（P=0.013）with 95% confidence interval between 0.087 and 0.948.Conclusions This study confirms an association of Nogo 3 UTR CAA insertion/deletion polymorphism and PvuⅡrestriction fragment length polylmorphism of estrogen receptor（ER）gene with multiple sclerosis.In addition,ER PvuⅡ p and Nogo Insert alletic gene may be protection factors for MS.

关 键 词：多发性硬化 雌激素受体基因PvuⅡ NOGO基因 基因多态性 

分 类 号：R744.51[医药卫生—神经病学与精神病学]