Association analysis of single-nucleotide polymorphisms of USP24 and USP40 with parkinson's disease in the Han Chinese population

摘要

Background: The ubiquitin-proteasomal pathway has been found to be involved in the etiology of Parkinson's disease (PD). Numerous single-nucleotide polymorphisms (SNPs) in both USP24 and USP40 genes have been linked to increased risks of late-onset PD, but the association has not been confirmed in the residents of mainland China, especially the Han population. Methods: We included 378 unrelated Han Chinese PD patients from south west China and 274 unrelated Han Chinese healthy controls from the same region. Multiple SNPs, including rs13312, rs1165226, rs487230, and rs287235 of USP24 and rs1048603 of USP40, were genotyped using Sequenom iPLEX Assay technology. Results: No significant differences in the genotype frequencies and minor allele frequency of all SNPs were observed between the PD and control groups, between the early-onset PD and control groups, between the late-onset PD and control groups, and between the early-onset PD and late-onset PD groups. Conclusion: The present study is the first to report a lack of association between SNPs of USP24 and USP40 and PD in Han Chinese patients. Other association studies with larger numbers of participants are necessary to confirm the present findings.