Abstract

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)](χ2=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), χ2=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. Key words: Autophagy; Atg7; Polymorphism single nucleotide; Parkinson's disease

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