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 4 7. 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 = l. 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.
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