Clonal hematopoiesis found in about 3% of a Korean community genome cohort

Clonal hematopoiesis, an age-related condition in which blood cells carrying certain mutations expand into clones, was detected in 93 participants, or 3.11%, of a community-based Korean whole-genome sequencing cohort, according to a cross-sectional analysis from the Jeju Genome Project published in BMC Medical Genomics. The study is notable because population-based Korean data defining the condition with published gene- and consequence-specific driver criteria at the variant level had been limited until now.

The analysis included 2,994 community-based participants whose blood-derived whole genomes were sequenced. To classify a participant as having clonal hematopoiesis, the researchers required at least one variant meeting published driver criteria specific to particular genes and mutation consequences. Prevalence rose sharply with age: only 0.8% of participants younger than 50 years carried such clones, compared with 7.9% of those aged 70 or older, an age gradient the authors describe as expected for this condition.

The molecular profile of the clones followed a familiar pattern. DNMT3A was the most frequently altered gene, mutated in 53 participants, or 57.0% of the clonal hematopoiesis cases, followed by TET2 in 21 participants, or 22.6%, and ASXL1 in 7 participants, or 7.5%.

Most carriers carried relatively few mutations. Among participants positive for clonal hematopoiesis, 93.5% had single-hit disease, meaning a single driver mutation, and 68.8% had large-clone disease, defined as a maximum variant allele fraction of at least 0.10.

The researchers also examined whether clonal hematopoiesis was linked to health conditions in the cohort. Logistic models of prevalent solid cancers and selected chronic diseases were adjusted for age, sex, current smoking, and current drinking. After false discovery rate correction, no association with solid cancer or the selected chronic diseases remained statistically significant. The authors caution that these findings should be read as a descriptive population genomic baseline rather than evidence of clinical effects, and they position the results as a foundation for future longitudinal and variant-curated analyses within the Jeju Genome Project.

Subject of Research: Prevalence and molecular profile of clonal hematopoiesis in a community-based Korean whole-genome sequencing cohort

Article Title: Prevalence and molecular profile of clonal hematopoiesis in a community-based Korean cohort: a cross-sectional analysis of the Jeju Genome Project

Article References: Nam, K. T., Jun, J., Jo, J., Kim, Y. R., Kim, H. J., Jho, S., & Choi, J. C. (2026). Prevalence and molecular profile of clonal hematopoiesis in a community-based Korean cohort: a cross-sectional analysis of the Jeju Genome Project. BMC Medical Genomics. https://doi.org/10.1186/s12920-026-02486-4

Image Credits: AI Generated

DOI: 10.1186/s12920-026-02486-4

Keywords: clonal hematopoiesis, whole-genome sequencing, Jeju Genome Project, Korean cohort, DNMT3A, TET2, ASXL1, cross-sectional study, population genomics, aging, variant allele fraction, BMC Medical Genomics