Session Information
Date: Wednesday, June 7, 2017
Session Title: Parkinson's Disease: Genetics
Session Time: 1:15pm-2:45pm
Location: Exhibit Hall C
Objective: To understand whether mtDNA variants contribute to the susceptibility to sporadic PD.
Background: It is well-recognized that mitochondrial (mt) dysfunction is involved in the pathogenesis of Parkinson disease (PD). The mtDNA displacement loop (D-loop) is known to accumulate structural alterations and mutations.
Methods: A total of 500 PD patients and 505 controls recruited from East China were analyzed for variations in the D-loop region.
Results: A total of 88 single nucleotide polymorphisms (SNPs), 2 deletions and 1 insertion were detected in the D-loop region with frequencies greater than 1%. Among them, 7 SNPs had significantly different incidences between PD patients and controls (P < 0.05). Following adjustment using the covariates of age and sex, 5 SNPs remained with statistical significance (P < 0.05). In detail, the frequencies of SNPs 151-T, 318-T, 16086-C, 16134-C and 16271-C in PD patients were 3.02, 8.53, 3.31, 6.05, and 6.53 time, respectively, higher than in the controls. Further analysis in haplogroups showed that the A5 haplogroup in PD patients had a significantly higher frequency (OR 3.93, 95% CI 1.072-14.408; P < 0.05). Meanwhile, the B5 exhibited a trend of protection against risk towards PD, which appeared statistically significant in a meta-analysis combining another Asian population (OR 0.53, 95% CI 0.38-0.75; P < 0.001).
Conclusions: Our study suggests that mtDNA variants modulate risk for Parkinson disease.
To cite this abstract in AMA style:
X. Zhang, T. Li, Z.-F. Fan, B.-L. Hu, J.-H. Zhu. Mitochondrial DNA variants function as potential genetic risk factors for Parkinson disease [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/mitochondrial-dna-variants-function-as-potential-genetic-risk-factors-for-parkinson-disease/. Accessed November 2, 2024.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/mitochondrial-dna-variants-function-as-potential-genetic-risk-factors-for-parkinson-disease/