维吾尔族和汉族帕金森病与α-突触核蛋白基因Rep1位点片段多态性的关系

Association of Rep1 polymorphism in α-synuclein gene and Parkinson＇s disease in Uygur and Han patients

目的 探讨帕金森病（PD）易感基因α-突触核蛋白（SNCA）的Rep1位点片段多态性差异维吾尔族、汉族间PD的相关性.方法 聚合酶链反应（PCR）结合直接测序法检测SNCA启动子区Rep1多态性.结果 Rep1位点0、1、2 3种等位基因,0/0、1/1、2/2、0/1、0/2、1/2 6种基因型;等位基因2频率在PD组中高于对照组分别为9.7％和6.4％）,差异有统计学意义（x2=7.81,P＜0.05）;早发型帕金森病（EOPD）组与年龄≤50岁对照组比较,等位基因2在两组间的频率分别为22.5％和7.3％.两组差异有统计学意义（x2=16.89,P＜0.01）;EOPD组与晚发型帕金森病（LOPD）组比较：在EOPD组中等位基因2的发生频率明显高于LOPD组,分别为22.5％、6.1％,差异有统计学意义（x2=35.52,P＜0.01）;不同民族间PD组与对照组、不同性别间PD组与对照组、晚发性PD组与年龄＞50岁的对照组、PD组间维、汉比较、PD组间男、女比较,差异均无统计学意义（P＞0.05）.结论 SNCA基因启动子区片段多态性位点Rep1的等位基因2与EOPD的易患性明显相关,而与民族、性别无明显相关.

Objective To explore the difference of Rep1 polymorphism in α-synuclein gene （SNCA） gene for Parkinson＇ s disease （PD） between Uygur and Han groups.Methods Rep1 polymorphism of SNCA in promoter region was detected by polymerase chain reaction （PCR） and direct sequencing.Results Three kinds of Rep1 locus alleles 0,1,2 and six kinds of genotypes （0/0,1/1,2/2,0/1,0/2,1/2） were found.The frequency of the allele 2 （9.7％ and 6.4％） was significantly higher in the PD group than in the control group （x2 =7.81,P ＜0.01）.The frequency of the allele 2 was 22.5％ in early onset Parkinson disease （EOPD） group,and 7.3％ in ≤50-year-old age control group respectively （x2 =16.89,P ＜0.01）.The frequency of the allele 2 was 22.5％ in EOPD group and 6.1％ late onset Parkinson＇ s disease （LOPD） group respectively （x2 =35.52,P ＜ 0.01）.The frequency of the allele 2 showed no significant difference between different ethnic PD group and control group,different genders PD group and control group,late-onset PD group and ＞ 50-year-old age control group,PD Uygur group and Han group,and men and women （P ＞0.05 for all）.Conclusion Allele 2 of Rep1 polymorphism in SNCA gene promoter region relates with EOPD susceptibility,regardless of ethnicity,gender.