파킨슨병 수면장애 및 운동증상 아형과 단일염기다형성과의 연관성을 확인하기 위한 선행연구

Abstract

With increasing research into the link between circadian rhythm disorders and Parkinson’s disease (PD), understanding this connection is essential for early prevention and personalized treatment. We analyzed eight SNPs from DNA purified from the blood of 42 subjects diagnosed with PD. These include (1) circadian rhythm gene-related SNPs ARNTL rs900147, CLOCK rs1801260, PER1 rs2253820, CRY1 rs2287161, (2) a redox metabolism-related SNP NRF2 rs1469602964, and (3) other PD-related SNPs LRRK2 rs34778348, GBA rs421016, SNCA rs104893877. We then compared the minor allele frequencies (MAFs) of these SNPs in PD patients with MAFs from a genome-wide study of Koreans. In the PD group, the frequency of the ARNTL rs900147 G allele was significantly higher than in the general Korean population, while no significant difference was found for CLOCK rs1801260, PER1 rs2253820, and CRY1 rs2287161. For NRF2 rs1469602964 and SNCA rs104893877, all participants had the same allele. Additionally, allele frequencies for LRRK2 rs34778348 and GBA rs421016, associated with increased PD risk, were higher in this sample group than in the Korean population. The ARNTL rs900147 G allele was linked to higher Parkinson’s Disease Sleep Scale scores (r = 0.43, p < 0.01 for GG genotype), which indicates milder PD-related sleep symptoms, and tremor-dominant subtype (r = 0.50, p < 0.001 for GG genotype). The CLOCK rs1801260 G allele and PER1 rs2253820 T allele may also be associated with poor nighttime sleep quality in PD patients. However, given the small sample size, further research with larger cohorts is required to validate these findings.