Germline predisposition to clonal hematopoiesis

Jie Liu; Afaf E G Osman; Kelly Bolton; Lucy A Godley

doi:10.1016/j.leukres.2023.107344

Germline predisposition to clonal hematopoiesis

Leuk Res. 2023 Sep:132:107344. doi: 10.1016/j.leukres.2023.107344. Epub 2023 Jun 19.

Authors

Jie Liu¹, Afaf E G Osman², Kelly Bolton¹, Lucy A Godley³

Affiliations

¹ Division of Oncology, Department of Medicine, Washington University School of Medicine, St Louis, MO, USA.
² Division of Hematology and Hematologic Malignancies, University of Utah, Salt Lake City, UT, USA.
³ Division of Hematology/Oncology, Department of Medicine, and the Robert H. Lurie Cancer Center, Northwestern University, Chicago, IL, USA. Electronic address: lucy.godley@northwestern.edu.

PMID: 37421681
DOI: 10.1016/j.leukres.2023.107344

Abstract

We now recognize that with aging, hematopoietic stem and progenitor cells (HSPCs) acquire mutations that confer a fitness advantage and clonally expand in a process now termed clonal hematopoiesis (CH). Because CH predisposes to a variety of health problems, including cancers, cardiovascular diseases, and inflammatory conditions, there is intense interest in the inherited alleles associated with the development of CH. DNA variants near TERT, SMC4, KPNA4, IL12A, CD164, and ATM confer the strongest associations. In this review, we discuss our current state of knowledge regarding germline predisposition to CH.

Publication types

Review

MeSH terms

Aging / genetics
Clonal Hematopoiesis* / genetics
Disease Susceptibility
Hematopoiesis* / genetics
Hematopoietic Stem Cells
Humans
Mutation
alpha Karyopherins / genetics

Substances

KPNA4 protein, human
alpha Karyopherins