Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

ABSTRACT: Somatic mosaicism (SM), the presence of somatic mutations, is classified as clonal hematopoiesis (CH) when it occurs in hematopoietic cells at an age-related rate. CH is associated with risk for hematologic malignancies and cardiovascular disease, but most studies are predominately based on individuals of European ancestry. Using peripheral blood whole exome sequencing data from 125,748 individuals of diverse genetic ancestries, we cataloged 503,703 SM mutations based on low variant allele frequency distributions and 89,361 CH variants based on age-skewing. We examined CH prevalence across ancestry groups, including commonly recognized pathogenic variants in myeloid (M-CHIP) and lymphoid (L-CHIP) malignancies. CH and M-CHIP variants had the highest prevalence in the European non-Finnish an

SUBMITTER: Colin-Leitzinger C 

PROVIDER: S-EPMC11957158 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature