The analysis of correlation between single nucleotide polymorphism at Atg7 rs14016 and Parkinson's disease

Abstract

Objective To investigate the association between rs14016(19+31C/T) polymorphisms of autophagy-related genes 7 (Atg7) and Parkinson's disease (PD) in Han population in China. Methods Totally 123 patients with Parkinson's disease (PD) (case group) and 101 synchronized health controls (control group) were selected from Chinese Han population between January 2013 and July 2016.A single nucleotide polymorphism (SNP) of rs14016 of Atg7 gene was detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis.After gene sequencing for genotyping and detection of alleles, genotype and allele frequency distributions were analyzed in the two groups. Results The frequency distributions of TT genotype and T alleles were 17.9% (22/123) and 41.1% (101/246) in the case group, and 5.9% (6/101) and 31.2% (63/202) in the control group, respectively.The difference in genotype frequencies between the two groups was statistically significant (χ2=7.236, P=0.007, OR=3.01, 95% CI: 1.27-7.14). The frequencies of T and C alleles were 41.1% (101/246) and 58.9% (145/246) respectively in the case group, and 31.2% (63/202) and 68.8% (139/202) in the control group (χ2=4.655, P=0.031, OR=1.32, 95%CI: 1.02-1.70), with the statistically significant difference in the allele.The TT genotype of rs14016 showed statistical significance between the two groups by logistic regression analysis (OR=3.40, 95%CI: 1.32-8.80, P=0.012). Conclusions The T allele and TT genotype at the rs14016 of Atg7 gene might be associated with PD, and might increase the risk for suffering from PD, which is worthy of further fully researches. Key words: Autophagy-related genes 7; Polymorphism, single nucleotide; Parkinson disease; Autophagy