Parkinson’s disease is associated with clonal hematopoiesis with TET2 mutation

Autor: Kyung Ah Woo, Han-Joon Kim, Chan Young Lee, Jung Hwan Shin, Choonghyun Sun, Hogune Im, Hongyul An, Jiwoo Lim, Su-Yeon Choi, Youngil Koh, Beomseok Jeon
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-7 (2024)
Druh dokumentu: article
ISSN: 2373-8057
DOI: 10.1038/s41531-024-00784-1
Popis: Abstract 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.
Databáze: Directory of Open Access Journals