Zhong Min, Jiao Yang, Zhao Aonan, Niu Mengyue, Ran Jinjun, Liu Jun, Li Yuanyuan
Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
School of Public Health, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Biomedicines. 2025 Mar 24;13(4):788. doi: 10.3390/biomedicines13040788.
: Genetic factors play an important role in idiopathic rapid eye movement sleep behavior disorder (iRBD) but have not been fully studied. This study aimed to analyze the Parkinson's disease (PD)-related genetic loci in iRBD in the southern Chinese population. : In this study, we recruited 292 individuals with PD, 62 with iRBD, and 189 healthy controls (HC). Candidate genes were identified primarily from the Parkinson's Progression Markers Initiative (PPMI) database. Genotypic and allele frequency analyses were conducted to compare the distribution across HC, iRBD, and PD groups. The effects of significant single-nucleotide polymorphisms (SNPs) on gene expression were examined. Clinical manifestations associated with different genotypes were also analyzed. The receiver operating characteristic (ROC) curve and Kaplan-Meier plots were utilized to further verify the diagnostic and predictive value of these SNPs. : We identified two significant SNPs associated with iRBD: rs13294100 of and rs165599 of . Clinical scale and polysomnography data analysis indicated that iRBD patients with the GA or AA genotype at the rs165599 locus have lower RBDSQ scores and higher sleep efficiency. Moreover, we identified that rs165599 and rs12637471 may play an important role in both PD and iRBD, while rs356181 was different between iRBD and PD. : Our research revealed that in the southern Chinese demographic, genetic loci in and were linked to iRBD and may act as potential biomarkers for iRBD risk. Additionally, there is evidence suggesting a partial genetic overlap between iRBD and PD, indicating a shared genetic predisposition.
遗传因素在特发性快速眼动睡眠行为障碍（iRBD）中起重要作用，但尚未得到充分研究。本研究旨在分析中国南方人群iRBD中与帕金森病（PD）相关的基因位点。
在本研究中，我们招募了292例帕金森病患者、62例iRBD患者和189名健康对照（HC）。候选基因主要从帕金森病进展标志物计划（PPMI）数据库中确定。进行基因型和等位基因频率分析，以比较HC、iRBD和PD组之间的分布情况。研究了显著单核苷酸多态性（SNP）对基因表达的影响。还分析了与不同基因型相关的临床表现。利用受试者工作特征（ROC）曲线和Kaplan-Meier图进一步验证这些SNP的诊断和预测价值。
我们确定了两个与iRBD相关的显著SNP：[基因名称1]的rs13294100和[基因名称2]的rs165599。临床量表和多导睡眠图数据分析表明，rs165599位点具有GA或AA基因型的iRBD患者RBDSQ评分较低，睡眠效率较高。此外，我们发现rs165599和rs12637471在PD和iRBD中可能都起重要作用，而rs356181在iRBD和PD之间存在差异。
我们的研究表明，在中国南方人群中，[基因名称1]和[基因名称2]的基因位点与iRBD相关，可能作为iRBD风险的潜在生物标志物。此外，有证据表明iRBD和PD之间存在部分遗传重叠，表明存在共同的遗传易感性。
