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

Abstract

Clonal hematopoiesis (CH) increases with age; however, population-based Korean data defined using variant-level driver criteria remain limited. We characterized CH in a large community-based Korean whole-genome sequencing (WGS) cohort within the Jeju Genome Project (JGP). We performed a cross-sectional analysis of 2,994 community-based participants using blood-derived WGS. Primary CH required at least one variant meeting published gene- and consequence-specific driver criteria. We summarized age-stratified prevalence, clone burden, and participant-level gene frequencies. Logistic models of prevalent solid cancers and selected chronic diseases were adjusted for age, sex, current smoking, and current drinking. CH was identified in 93 participants (3.11%) and increased with age, from 0.8% of participants younger than 50 years to 7.9% of those aged ≥ 70 years. The most frequent genes were DNMT3A (53 participants, 57.0%), TET2 (21 participants, 22.6%), and ASXL1 (7 participants, 7.5%). Among CH-positive participants, 93.5% had single-hit CH and 68.8% had large-clone CH (maximum variant allele fraction ≥ 0.10). No association with solid cancer or selected chronic diseases remained significant after false discovery rate correction. In this community-based Korean WGS cohort, CH was present in approximately 3% of participants and showed the expected age gradient, with DNMT3A , TET2 , and ASXL1 as the most frequent genes. These findings provide a descriptive population genomic baseline for future longitudinal and variant-curated CH analyses in the JGP.

The authors' abstract, as published at the source. BMC Medical Genomics, 2026 · DOI ↗