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Characterizing Mutational Load and Clonal Composition of Human Blood
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Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

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Clonal Hematopoiesis: Somatic Mutations in Blood Cells and Atherosclerosis

Pradeep Natarajan1,2,3, Siddhartha Jaiswal4,2,3, Sekar Kathiresan5

  • 1Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston (P.N., S.K.). pnatarajan@mgh.harvard.edu.

Circulation. Genomic and Precision Medicine
|July 11, 2018
PubMed

Insights

Age is a key factor in atherosclerotic cardiovascular disease. Clonal hematopoiesis, common in older adults, increases risks for both blood cancers and cardiovascular disease.

Area of Science:

  • Cardiovascular Science
  • Hematology
  • Genetics

Background:

  • Age is the primary prognostic factor for atherosclerotic cardiovascular disease (ASCVD).
  • Somatic mutations in blood cells, known as clonal hematopoiesis, are increasingly prevalent with age.
  • Over 10% of adults over 70 are affected by clonal hematopoiesis.

Purpose of the Study:

  • To review literature on clonal hematopoiesis and its association with ASCVD.
  • To examine the causal link between clonal hematopoiesis and atherosclerotic cardiovascular disease.

Main Methods:

  • Review of existing scientific literature.
  • Analysis of exome sequence data.
  • Examination of studies on clonal selection and expansion in hematopoietic stem cells.

Main Results:

  • Clonal hematopoiesis is common in older adults and increases with age.
  • Individuals with clonal hematopoiesis face higher risks of hematologic malignancy.
  • Clonal hematopoiesis is associated with an elevated risk of atherosclerotic cardiovascular disease.

Conclusions:

  • Clonal hematopoiesis is a significant risk factor for atherosclerotic cardiovascular disease.
  • Understanding the mechanisms of clonal expansion in hematopoietic stem cells is crucial.
  • Further research is needed to elucidate the causal relationship between clonal hematopoiesis and ASCVD.

Keywords:
blood cellclonal evolutioncoronary artery diseasegeneticshematologic neoplasmshematopoiesishuman

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