Title : Exploring the role of rare non-coding variants in lncRNAs associated with early-onset parkinson’s disease: A case-control genomic study
Abstract:
Background: Parkinson’s disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor dysfunction and dopaminergic neuronal loss. While several coding mutations have been implicated in familial PD, the contribution of non-coding genomic elements, particularly long non-coding RNAs (lncRNAs), remains underexplored, especially in early-onset cases.
Objective: This study aims to identify and characterize rare non-coding variants in lncRNAs that may play a role in the genetic predisposition to early-onset Parkinson’s disease (EOPD).
Methods: A case-control design will be employed using whole-genome sequencing data from 100 EOPD patients and 100 matched healthy controls. Bioinformatic pipelines will filter for rare, non-coding variants within annotated lncRNA regions. Functional enrichment and in silico prediction tools will assess potential regulatory impact.
Results (Anticipated): We anticipate identifying a subset of rare non-coding variants significantly enriched in EOPD patients. These variants may influence neuronal gene expression through lncRNA-mediated regulatory mechanisms.
Conclusion: The study will contribute to understanding the genetic architecture of Parkinson’s disease by highlighting the role of non-coding RNAs. This could open new pathways for diagnostics and therapeutic targeting in EOPD.
