【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。更多还原

【Abstract】 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;OR=2.62,95%CI: 1.32～5.19) and rs17587319C allele(the cases 89.4% vs the controls 74.7%,P=0.00l;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.更多还原