DJ-1基因多态性与四川地区散发性帕金森病的相关性研究  

Association of the DJ-1 gene polymorphism with sporadic Parkinson＇s disease in Sichuan province of China

作　　者：陈文军[1,4] 彭蓉[1] 李涛[2,3] 吴妍[1] 张锦红[1] 王英成[2] 袁光固[1] 苟婴茹[1] 蒋渠英[1] 

机构地区：[1]四川大学华西医院神经内科,成都610041 [2]四川大学华西医院精神科,成都610041 [3]Department of Psychological Medicine, the Institute of Psychiat~,, De CrespignyPark, Denmark Hill, London, SE5 8AF, UK. [4]山西省人民医院神经内科

出　　处：《中华医学遗传学杂志》2008年第5期566-569,共4页Chinese Journal of Medical Genetics

基　　金：四川省科技局基金资助课题（2006J13-099）

摘　　要：目的了解DJ-1基因3个多态位点（g．168—185del；SNP405，refSNP ID：rs3766606；293G／A）的频率以及与帕金森病的相关性。方法采用病例一对照研究，应用聚合酶链反应一限制性片段长度多态性及DNA测序等技术对192例帕金森病患者和198名对照者的3个位点进行基因型的检测。结果在g．168—185del位点，研究人群中Ins／Ins基因型较普遍，等位基因Del的频率很低（0．38％）；在所检测的人群中未发现293G／A的多态性。上述结果与欧美国家的报道不一致。在SNP405G／T多态位点中，在发病年龄小于40岁的帕金森患者群中G／T基因型频率显著高于对照组（18．75％VS5．54％，P：0．004，OR=6．30，95％CI：1．96～20．18）。结论g．168—185del和293G／A两多态性位点的频率在中国人群与欧美人群间可能存在差异；非翻译区SNP405G／T多态性可能增加早发帕金森病的发病风险。Objective To investigate the frequencies of three polymorphisms in DJ-1 （g. 168-185del; SNP405, refSNP ID： rs3766606 and 293 G/A） and their association with sporadic Parkinson＇s disease. Methods An association study was performed to determine the genotype of each subject using polymerase chain reaction, restriction fragment length polymorphism and sequence analysis in 192 patients with sporadic Parkinson＇ s disease and 198 healthy controls. Results In the g. 168-185del locus, the Ins/Ins genotype was common and the frequency of Del allele was very low （0.38%）. The SNP of 293G/A was not detected in both groups. In the SNP405 G/T site, the GT genotype frequency was significantly higher in patients with age of onset before 40 years than in contruls （ 18.75% vs 5.54%, P = 0. 004, OR = 6.30 95 % CI ： 1.96 - 20.18）. Conclusion The results suggest that the frequencies of the g. 168- 185del and 293G/A polymorphisms might be different between Chinese and European. The SNP405 GT genotype might he a risk factor for sporadic Parkinson＇ s disease with early age of onset in Sichuan Han population.

关 键 词：帕金森病 DJ-1基因 遗传多态性 

分 类 号：R686[医药卫生—骨科学]