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.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/mitochondrial-dna-variants-function-as-potential-genetic-risk-factors-for-parkinson-disease/