自噬相关基因5(Atg5)标签单核苷酸多态性与帕金森病的相关性研究  

Association between tag polymorphism rs17587319 of autophagy-related gene 5(Atg5) and Parkinson's disease

作　　者：刘良芳[1] 陈煜森[1] 刘洲[1] 冼文川[1] 钟望涛[1] 赵斌[1] 许志恩[1] 刑永前[1] 

机构地区：[1]广东医学院附属医院神经内科,湛江524001

出　　处：《中国实用神经疾病杂志》2010年第9期4-7,共4页Chinese Journal of Practical Nervous Diseases

基　　金：广东省卫生厅科研项目A2007453

摘　　要：目的探讨中国粤西地区汉族人群自噬相关基因5(autophagy-related gene 5,Atg5)标签单核苷酸多态性(TagSNP)rs17587319C/G多态性与帕金森病(PD)的关系。方法采用病例-对照研究,应用聚合酶链反应-限制性酶切片段长度多态性分析方法(PCR-RFLP)检测80例PD患者(病例组)和87例健康对照者(对照组)的Atg5基因Tag SNP rs17587319C/G多态。结果病例组CC基因型为78.7%,对照组为58.6%,差异有统计学意义(P=0.005,OR=2.62,95%CI:1.32～5.19);C等位基因频率在病例组和对照组分别为89.4%和74.7%,差异有统计学意义(P=0.001,OR=2.85,95%CI:1.55～5.23);对照组中发现8例Atg5基因Tag SNP rs17587319C/G的GG纯合子,而在病例组中未发现。结论 Atg5基因TagSNP rs17587319C/G的C等位基因与CC基因型可能是PD的危险因素。Objective To investigate the relationship between Parkinson＇s disease （PD） and the tag single-nucleotide polymorphism （rs17587319C/G） of Atg5 （autophagy-related gene 5） in Han population of the Western Guangdong province in China. Methods A case-control study of 80 patients with PD （case group） and 87 healthy controls （control group） was conducted. The SNP of rs17587319C/G of Atg5 gene was identified by the polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）, and the genotype and allele frequency distributions in PD patients and normal controls were analyzed. Results The genotype frequencies of Atg5 gene tag SNP rs 17587319C/G polymorphism of the two groups were in Hardy-Weinberg equilibrium. There were significant differences in the rs17587319CC genotype （the cases 78.7% vs the controls 58.6%, P=0.005; 0R=2.62, 95% CI： 1.32~5.19） and rs17587319C allele （the cases 89.4% vsthecontrols74.7%, P= 0. 001; OR=2.85, 95%CI： 1.55~5.23）. Eight GG homozygotes were found in control group, but none in case group. Conclusion The CC genotype and C allele of Atg5 tag SNP rs17587319C/G polymorphism may be risk factors of PD.

关 键 词：Atg5 标签单核苷酸多态性(Tag SNP) 帕金森病 

分 类 号：R742.5[医药卫生—神经病学与精神病学]