Clonal hematopoiesis of indeterminate potential (CHIP), a premalignant expansion of mutated hematopoietic stem cells, is linked to immune alterations. Given the role of neuroinflammation and immune dysfunction in Parkinson’s disease (PD), we hypothesized a connection between CHIP and PD. We analyzed peripheral blood DNA from 341 PD, 92 isolated REM sleep behavior disorder (iRBD) patients, and 5003 controls using targeted sequencing of 24 genes associated with hematologic neoplasms. PD cases were classified by clinical progression mode: fast, slow, and typical. Using multivariable logistic regression models, CHIP prevalence was assessed against controls with a 1.0% variant allele fraction threshold. CHIP with TET2 mutations was more prevalent in PD than controls (aOR 1.75, 95% CI 1.11–2.77, p = 0.017), particularly in the fast motor progression subgroup (aOR 3.19, p = 0.004). No distinct associations were observed with iRBD. PD is linked to increased odds of CHIP with TET2 mutations, suggesting immune dysregulation in PD pathophysiology.

不确定潜能克隆造血（CHIP）是突变造血干细胞的癌前扩增，与免疫改变有关。鉴于神经炎症和免疫功能障碍在帕金森病 (PD) 中的作用，我们假设 CHIP 和 PD 之间存在联系。我们使用与血液肿瘤相关的 24 个基因的靶向测序，分析了 341 名 PD、92 名分离的 REM 睡眠行为障碍 (iRBD) 患者和 5003 名对照者的外周血 DNA。 PD病例按临床进展模式分类：快速、慢速和典型。使用多变量逻辑回归模型，对照具有 1.0% 变异等位基因分数阈值的对照评估 CHIP 患病率。携带TET2突变的 CHIP 在 PD 中比对照组更常见（aOR 1.75，95% CI 1.11-2.77， p = 0.017），特别是在快速运动进展亚组中（aOR 3.19， p = 0.004）。没有观察到与 iRBD 的明显关联。 PD 与TET2突变的 CHIP 几率增加有关，表明 PD 病理生理学中存在免疫失调。