Clonal hematopoiesis of indeterminate potential (CHIP): Linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease

J Mol Cell Cardiol. 2021 Dec:161:98-105. doi: 10.1016/j.yjmcc.2021.07.004. Epub 2021 Jul 21.

Abstract

Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of a clonally expanded hematopoietic stem cell caused by a leukemogenic mutation in individuals without evidence of hematologic malignancy, dysplasia, or cytopenia. CHIP is associated with a 0.5-1.0% risk per year of leukemia. Remarkably, it confers a two-fold increase in cardiovascular risk independent of traditional risk factors. Roughly 80% of patients with CHIP have mutations in epigenetic regulators DNMT3A, TET2, ASXL1, DNA damage repair genes PPM1D, TP53, the regulatory tyrosine kinase JAK2, or mRNA spliceosome components SF3B1, and SRSF2. CHIP is associated with a pro-inflammatory state that has been linked to coronary artery disease, myocardial infarction, and venous thromboembolic disease, as well as prognosis among those with aortic stenosis and heart failure. Heritable and acquired risk factors are associated with increased CHIP prevalence, including germline variation, age, unhealthy lifestyle behaviors (i.e. smoking, obesity), inflammatory conditions, premature menopause, HIV and exposure to cancer therapies. This review aims to summarize emerging research on CHIP, the mechanisms underlying its important role in propagating inflammation and accelerating cardiovascular disease, and new studies detailing the role of associated risk factors and co-morbidities that increase CHIP prevalence.

Keywords: ASCVD; Aortic stenosis; CHIP; Cardio-oncology; Heart failure; Inflammation.

Publication types

  • Review

MeSH terms

  • Aging / genetics
  • Aging / physiology
  • Animals
  • Cardiovascular Diseases / blood
  • Cardiovascular Diseases / epidemiology
  • Cardiovascular Diseases / genetics*
  • Chromosome Aberrations
  • Clonal Hematopoiesis / genetics
  • Clonal Hematopoiesis / physiology*
  • DNA Methyltransferase 3A / genetics
  • DNA-Binding Proteins / genetics
  • Dioxygenases / genetics
  • Humans
  • Inflammation / blood
  • Inflammation / genetics*
  • Mutation*
  • Repressor Proteins / genetics
  • Risk Factors

Substances

  • ASXL1 protein, human
  • DNA-Binding Proteins
  • DNMT3A protein, human
  • Repressor Proteins
  • Dioxygenases
  • TET2 protein, human
  • DNA Methyltransferase 3A