Common genetic variants associated with Parkinson’s disease display widespread signature of epigenetic plasticity

Amit Sharma, Naoki Osato, Hongde Liu, Shailendra Asthana, Tikam Chand Dakal, Giovanna Ambrosini, Philipp Bucher, Ina Schmitt, Ullrich Wüllner*

*この研究の対応する著者

研究成果: Article査読

14 被引用数 (Scopus)

抄録

Parkinson disease (PD) is characterized by a pivotal progressive loss of substantia nigra dopaminergic neurons and aggregation of α-synuclein protein encoded by the SNCA gene. Genome-wide association studies identified almost 100 sequence variants linked to PD in SNCA. However, the consequences of this genetic variability are rather unclear. Herein, our analysis on selective single nucleotide polymorphisms (SNPs) which are highly associated with the PD susceptibility revealed that several SNP sites attribute to the nucleosomes and overlay with bivalent regions poised to adopt either active or repressed chromatin states. We also identified large number of transcription factor (TF) binding sites associated with these variants. In addition, we located two docking sites in the intron-1 methylation prone region of SNCA which are required for the putative interactions with DNMT1. Taken together, our analysis reflects an additional layer of epigenomic contribution for the regulation of the SNCA gene in PD.

本文言語English
論文番号18464
ジャーナルScientific reports
9
1
DOI
出版ステータスPublished - 2019 12月 1
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ASJC Scopus subject areas

  • 一般

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