Ann Lab Med.  2024 Nov;44(6):576-580. 10.3343/alm.2024.0086.

Association Between Clonal Hematopoiesis of Indeterminate Potential and Brain β-Amyloid Deposition in Korean Patients With Cognitive Impairment

• Yun J
• Youn YC
• Kim HR

• KMID: 2560805
• DOI: http://doi.org/10.3343/alm.2024.0086

Abstract

Few studies have focused on the association between clonal hematopoiesis of indeterminate potential (CHIP) and β-amyloid (Aβ) deposition in the brain, which causes Alzheimer’s disease. We aimed to investigate the potential role of CHIP in brain Aβ deposition in Korean patients. We enrolled 58 Korean patients over 50 yrs of age with cognitive impairment who underwent brain Aβ positron emission tomography. We explored CHIP in their peripheral blood using deep-targeted next-generation sequencing. Irrespective of the presence or absence of brain Aβ deposition, mutations in DNMT3A and the C:G > T:A single-nucleotide variants were identified as the primary characteristics, which reflect aged hematopoiesis in the study population. Multivariate logistic regression revealed that the presence of CHIP was not associated with brain Aβ deposition. As both CHIP and brain Aβ deposition are associated with aging, further research is required to elucidate their possible interplay.

Keyword

Alzheimer’s disease; β-Amyloid protein; Clonal hematopoiesis of indeterminate potential; Next-generation sequencing; Positron emission tomography