Objective: To investigate the relationship between DNA methylation/hydroxymethylation genes and Parkinson’s disease (PD), we conducted genetic analysis in a relatively large Chinese population.

Background: PD is one of the most common neurodegenerative diseases. Genetic factors, environmental factors, and their interactions with aging increase susceptibility to PD. As one of epigenetic modifications, DNA methylation is an important regulatory mechanism of PD, which may act as bridges between genetic and environmental factors. Variants in genes encoding enzymes and binding proteins could disrupt methylation and demethylation processes and might be associated with PD risks. Up to now, the comprehensive analyses of DNA methylation/hydroxymethylation genes in PD is lack.

Method: Using molecular inversion probes (MIPs), we sequenced 12 genes (DNMT1, DNMT3A, DNMT3B, MBD1, MBD2, MBD3, MBD4, MECP2, TET1, TET2, TET3,andUHRF1) related to DNA methylation/hydroxymethylation in1,657 patients and 1,394 controls. We conducted gene-wise association analyses of rare variants in the present study.

Results: We identified the TET1gene as important in PD (p:0.0037738, 0.013, 0.019521(b.collapse Test, VT Test and skat-o Test, respectively;sex+age as covariates). However, no positive results were observed when conducting association analyses on common variants in these genes.

Conclusion: We performed a comprehensive analysis of associations between variants of DNA methylation/hydroxymethylation genes and PD, resulting in determination that TET1might play a role in PD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-analysis-of-dna-methylation-and-hydroxymethylation-genes-in-parkinsons-disease/