晚发散发性帕金森病与自噬相关基因Atg7 rs2606757位点基因多态性的关联研究  

Correlation between late-onset sporadic Parkinson's disease and single nucleotide polymorphism of Atg7 rs2606757

作　　者：赵西耀[1] 陈煜森 王力[1] 李向新[1] 陈霄仪 Zhao Xiyao;Chen Yusen;Wang Li;Li Xiangxin;Chen Xiaoyi(Department of Neurology, the Second Affiliated Hospital(Jiande Branch), School of Medicine, Zhejiang University, Hangzhou 311600, China;Department of Neurology, Affiliated Hospital of GuangDong Medical University, Zhanjiang 524001, China)

机构地区：[1]浙江大学医学院附属第二医院建德分院神经内科,杭州311600 [2]广东医科大学附属医院神经内科,湛江524001

出　　处：《中华老年医学杂志》2019年第1期10-13,共4页Chinese Journal of Geriatrics

基　　金：杭州市医疗卫生科研项目(20150633B82).

摘　　要：目的探讨晚发散发性帕金森病(PD)与自噬相关基因Atg7基因rs2606757位点多态性的关联。方法在124例晚发散发性PD患者(病例组)和同期105例年龄、性别匹配的健康体检者(对照组)中,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)及对部分标本基因测序的方法检测Atg7基因rs2606757位点的基因型频率,并分析其基因型及等位基因频率在两组中的分布特点。结果病例组和对照组AA基因型频率分别为34.7%(43/124)和53.3%(56/105),(χ^2=8.063,P=0.005),OR值为0.465(95%CI:0.273~0.791)。性别分层分析发现携带rs2606757 AA基因型的男性发生晚发散发性PD的风险降低[病例组33.3%(23/69)比对照组53.2%(33/62)](χ^2=5.280,P=0.022),OR值为0.439(95%CI:0.217~0.891)。Logistics回归分析发现,两组间Atg7基因rs2606757位点AA基因型频率差异有统计学意义(P=0.004),OR值为2.210(95%CI:1.289~3.789)。结论Atg7基因rs2606757位点AA基因型可能与男性晚发散发性PD患病风险降低有关。Objective To investigate the correlation between late-onset sporadic parkinson's disease(PD)and single nucleotide polymorphism(SNP)of autophagy-related genes 7(Atg7)rs2606757(6+ 1196A/T)in Han Chinese population. Methods Totally 124 patients with late-onset sporadic PD(the PD group)and 105 age- and sex-matched healthy individuals(the control group)were enrolled in this study.The SNP of Atg7 rs2606757 was detected by the polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP). After gene sequencing for the detection of allele and genotype frequencies distribution and testing Hardy-Weinberg equilibrium, the differences in Atg7 rs2606757 genotype and allele frequency were compared between PD group and control group and between males and females. Results The frequency of AA genotype was statistically significantly lower in the PD group[34.7%(43/124)]than in the control group[53.3%(56/105)](χ^2=8.063, P=0.005, OR=0.465, 95%CI: 0.273-0.791). In men's PD group versus men's control group, AA genotype of the Atg7 rs2606757 showed a lower frequency for late-onset sporadic PD[33.3%(23/69)vs.53.2%(33/62),χ^2=5.280, P=0.022, OR=0.439, 95%CI: 0.217-0.891]. Logistic regression analysis indicated that the AA genotype frequency distribution of Atg7 rs2606757 showed a significant difference between PD and control groups(OR=2.210, 95%CI: 1.289-3.789, P=0.004). Conclusions The higher frequence of AA genotype at Atg7 rs2606757 only in males might be associated with the decreased risk of late-onset sporadic PD.

关 键 词：自噬 Atg7基因 多态性单核昔酸 帕金森病 

分 类 号：R742.5[医药卫生—神经病学与精神病学]