articleNature GeneticsJul 14, 2022HYBRID OA

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

SKSiddhartha KarPMPedro M. QuirósMGMuxin GuTJTao JiangJMJonathan Mitchell

At Bristol · University of Bristol · +10 more institutions

PubMed
Indexed incrossrefdatacitepubmed

Abstract

Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven by somatic driver mutations, affects over a third of people, yet remains poorly understood. Here we analyze genetic data from 200,453 UK Biobank participants to map the landscape of inherited predisposition to CH, increasing the number of germline associations with CH in European-ancestry populations from 4 to 14. Genes at new loci implicate DNA damage repair (PARP1, ATM, CHEK2), hematopoietic stem cell migration/homing (CD164) and myeloid oncogenesis (SETBP1). Several associations were CH-subtype-specific including variants at TCL1A and CD164 that had opposite associations with DNMT3A- versus TET2-mutant CH, the two…

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Topics & keywords

Topics
Keywords
  • Biology
  • Epigenetics
  • Genetics
  • Germline
  • Genetic predisposition
  • Germline mutation
  • Carcinogenesis
  • Genome-wide association study
UN Sustainable Development Goals
  • Good health and well-being
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