ArticlePsychiatry and clinical psychopharmacology2025
Identification of Novel Genetic Loci for Parkinson's Disease Using Whole-Exome and Whole-Genome Sequencing.
Article in Psychiatry and clinical psychopharmacology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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: Forty-seven genes that may be associated with PD were identified by co-separation analysis, clustering analysis, correlation analysis of resequencing data, and 2 of them were common. For these two genes, polymerase chain reaction (PCR) and Sanger sequencing were performed in family members, and quantitative PCR (qPCR) was conducted in 6 sporadic PD patients and 6 controls to detect mRNA expression. It was found that the Conclusion: Therefore, it was speculated that the mutation of
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