自噬相关基因5基因多态性及其单倍体型与帕金森病的相关性研究  

Association of autophagy-related gene 5 tag single-nucleotide polymorphism and haplotype with Parkinson disease

作　　者：陈煜森[1] 刘良芳[1,2] 林智君[1] 冼文川[1] 钟望涛[1] 赵斌[1] 许志恩[1] 

机构地区：[1]广东医学院附属医院神经内科,广东湛江524001 [2]湘潭市第一人民医院神经内科,湖南湘潭411101

出　　处：《临床荟萃》2012年第8期672-675,680,共5页Clinical Focus

基　　金：广东省医学科研基金(A2007453)

摘　　要：目的探讨自噬相关基因5(Atg5)基因3个标签单核苷酸多态性(Tag SNP,rs17587319C/G、rs573775C/T、rs9486315C/T)及其单倍体型与帕金森病(PD)发病的关系。方法采用病例-对照研究,PD患者80例(病例组)和健康体检者87例(对照组)为对象,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Atg5Tag SNP rs17587319C/G、rs573775C/T、rs9486315C/T,并分析其基因型及等位基因频率在正常人群及PD患者中的分布特点。结果 Atg5Tag SNP rs17587319C/G的C等位基因频率病例组为89.4%(143/160),对照组为74.7%(130/174),差异有统计学意义(P<0.01);病例组CC基因型频率为78.7%(63/80),对照组为58.6%(51/87),差异有统计学意义(P<0.01)。SNP rs573775C/T和rs9486315C/T的等位基因频率及基因型频率在两组间的差异无统计学意义(P>0.05)。Logistic回归分析结果SNP rs17587319C/G的CC基因型与PD的发病有独立相关性(P<0.01)。单倍体型分析结果病例组中H1、H2单倍体型的频率高于对照组(P<0.05和<0.01)。结论 H1,H2单倍体型和Atg5Tag SNP rs17587319C/G的C等位基因可能是PD的危险因素。Objective To investigate the association between autophagy-related gene 5（Atg 5） gene tag single-nucleotide polymorphisms（tag SNPs,including rs17587319C/G,rs573775C/T and rs9486315C/T） and the haplotype and Parkinson disease（PD）. Methods Patient group consisted of 80 patients with PD and control group of 87 healthy people.Three tag single nucleotide polymorphisms（SNPs） of the Atg5 gene were identified by polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP）,the SNPs including rs17587319 C/G,rs573775 C/T and rs9486315 C/T at the intron 6,intron1 and intron 3 of Atg 5 gene,respectively.And then we analyzed the relationship between tag SNPs of Atg5 gene with patients of PD. Results C allele frequency of Atg5 gene tag SNP rs17587319C/G was 89.4%（143/160） in PD,and that in controls was 74.7%（130/174）,their difference was significant（P0.01）;In PD,CC genotype frequency was 78.7%（63/80）,and that in controls was 58.6%（51/87）,the difference was significant（P0.01）.Allele or genotype frequency of SNP rs573775C/T and rs9486315C/T was no significance between two groups（P0.05）.In logistic regression analysis,CC genotype of tag SNP rs17587319C/G was independently associated with PD（P0.01）.The frequencies of H1 and H2 haplotypes in patient group were significantly higher than those in healthy controls（P0.05 or 0.01）. Conclusion The haplotype H,H2 and C allele of Atg5 gene tag SNP rs17587319C/G may be risk factors of PD.

关 键 词：帕金森病 自噬 基因顺序 

分 类 号：R749.12[医药卫生—神经病学与精神病学]