泛素羧基末端水解酶L1基因S18Y多态性与脑淀粉样血管病的关系  

Association of S18Y polymorphism of ubiquitin carboxy-terminal hydrolase-L1 gene with cerebral amyloid angiopathy

作　　者：陈婧[1] 吴琴[1] 尹义军[1] 

机构地区：[1]湖北省黄石市中心医院检验科,435000

出　　处：《国际检验医学杂志》2011年第20期2336-2338,共3页International Journal of Laboratory Medicine

摘　　要：目的探讨中国汉族人群泛素羧基末端水解酶L1(UCH-L1)基因的S18Y多态性在脑淀粉样血管病(CAA)发病机制中的作用。方法利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测40例经病理学证实的CAA患者和40例健康人UCH-L1基因S18Y多态性分布后,进行病例-对照相关分析。结果 S18Y多态性YY基因型频率在CAA组(22.5%)和健康对照组(12.5%)差异无统计学意义(χ2=1.385,P=0.205);SY基因型频率在CAA组(47.5%)和对照组(25.0%)差异有统计学意义(χ2=4.381,P=0.033);Y等位基因频率在CAA组(46.2%)和对照组(25.0%)差异有统计学意义(χ2=7.876,P=0.005);SY基因型频率、Y等位基因频率与CAA呈正相关(OR=1.900,95%CI:1.036～4.595;OR=1.850,95%CI:1.143～2.140)。结论中国汉族人群L1(UCH-L1)基因的S18Y多态性的杂合子SY可能是CAA的遗传易感性基因型,Y等位基因携带者也对CAA有较高的遗传易感性。Objective To explore the relationship between the S18Y polymorphism of ubiquitin carboxy-terminal hydrolase-L1（UCH-L1）gene and cerebral amyloid angiopathy（CAA）.Methods The PCR-RFLP（Restriction fragment length polymorphism）method was used to determine S18Y polymorphism in UCH-L1 gene in the case group（n=40）and healthy control group（n=40）.Results The YY carriers genotyping frequency of S18Y polymorphism in the case group was 22.5%,and that in healthy control group was 12.5%,there was not significant difference between two groups（χ2=1.385,P=0.205）;the SY carriers genotyping frequency in the case group was 47.5%,and that in healthy control group was 25.0%,there was significant difference between two groups（χ2=4.381,P=0.033）;Y allele carriers genotyping in the case group was 46.2%,and that in healthy control group was 25.0%,there was not significant difference between two groups（χ2=7.876,P=0.005）.The SY and Y allele carriers genotyping frequencies of S18Y polymorphism are the significant association between UCH-L1 gene and sporadic CAA（OR=1.900,95%CI：1.036-4.595;OR=1.850,95%CI：1.143-2.140）.Conclusion The results indicate that the polymorphism of S18Y in UCH-L1 gene maybe the predisposing gene of CAA in Chinese Han population.

关 键 词：脑淀粉样血管病 泛素羧基末端水解酶L1基因 基因多态性分析 

分 类 号：R743.3[医药卫生—神经病学与精神病学]