Hubei Key Laboratory of Agricultural Bioinformatics, College of Informatics, Huazhong Agricultural University, Wuhan 430070, China.
Genes (Basel). 2020 Sep 21;11(9):1100. doi: 10.3390/genes11091100.
Genome-wide association studies (GWAS) have identified tens of genetic variants associated with Parkinson's disease (PD). Nevertheless, the genes or DNA elements that affect traits through these genetic variations are usually undiscovered. This study was the first to combine meta-analysis GWAS data and expression data to identify PD risk genes. Four known genes, , , and , and two new risk genes, and , were identified. Among them, is a known drug target, indicating that hydrocortisone may become a potential drug for the treatment of PD. Furthermore, the potential pathogenesis of and was explored by applying DNA methylation (DNAm) data, indicating a pathogenesis whereby the effect of a genetic variant on PD is mediated by genetic regulation of transcription through DNAm. Overall, this research identified the risk genes and pathogenesis that affect PD through genetic variants, which has significance for the diagnosis and treatment of PD.
全基因组关联研究 (GWAS) 已经确定了数十种与帕金森病 (PD) 相关的遗传变异。然而，通过这些遗传变异影响性状的基因或 DNA 元件通常尚未被发现。本研究首次将荟萃分析 GWAS 数据和表达数据相结合，以鉴定 PD 风险基因。鉴定出了四个已知基因、、、和、两个新的风险基因和。其中，是已知的药物靶点，表明氢化可的松可能成为治疗 PD 的潜在药物。此外，通过应用 DNA 甲基化 (DNAm) 数据探索了和的潜在发病机制，表明一种遗传变异对 PD 的影响是通过 DNAm 介导的转录遗传调控来实现的。总的来说，这项研究通过遗传变异鉴定出了影响 PD 的风险基因和发病机制，这对 PD 的诊断和治疗具有重要意义。
