Identification of Novel Genetic Loci for Parkinson’s Disease Using Whole-Exome and Whole-Genome Sequencing
Year: 2025
Type: article
Study design: Observational Study
Abstract: Background: Parkinson's disease (PD) is a prevalent neurodegenerative disorder characterized by a multifaceted genetic foundation. We hypothesized that combining whole-genome sequencing (WGS) with whole-exome sequencing (WES) in a multi-generational family affected by PD could identify rare and novel variants of genes associated with PD. Methods: This study included a family showing multiple members affected by PD and exhibiting an apparent dominant inheritance pattern. Seventeen family members were genotyped by WES and 6 of them was additionally analyzed by WGS. The common variants were validated by Sanger sequencing. Results: mutation frequency and mRNAexpression had no significant difference. Conclusion: in exon (chr7: 44610462) might be related to the occurrence of PD.
Authors: Qian Xu, Mei Zhou, Huixin Ni, Haixin Liu, Zhengtao Gao, Fangzhen Wu, Yao Lin
Institution: Fujian University of Traditional Chinese Medicine
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $590
OpenAlex ID: W4409567600