Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality. (March 2023)

• Record Type: Journal Article
• Authors: Hubbard, Aubrey K.; Brown, Derek W.; Machiela, Mitchell J.
• Is Part Of: Leukemia research. Volume 126(2023)
• Publication Date: 2023-03
• Subjects: Clonal hematopoiesis -- Mosaic chromosomal alterations -- Disease risk -- Risk factors -- Epidemiology; CH Clonal hematopoiesis -- mCA mosaic chromosomal alteration -- mLOY mosaic loss of the Y chromosome -- mLOX mosaic lossof the X chromosome -- CNLOH copy neutral loss of heterozygosity -- CHIP clonal hematopoiesis of indeterminate potential; Leukemia -- Periodicals; Leukemia -- Periodicals; Leucémie -- Périodiques; Leukemia; Periodicals; Electronic journals; Electronic journals; 616.9941905
• DOI: 10.1016/j.leukres.2023.107022
• Languages: English
• ISSNs: 0145-2126

Abstract

Abstract: Mosaic chromosomal alterations (mCAs) are the clonal expansion of large somatically acquired structural chromosomal changes present on the autosomes and sex chromosomes. Most studies of mCAs use existing genotype array intensity data from large populations to investigate potential risk factors and disease outcomes associated with mCAs. In this review, we perform a comprehensive examination of existing evidence for mCA disease and mortality associations and provide a framework for interpreting these associations in the context of important biases specific to mCA studies. Our goal is to motivate well-designed mCA studies to assist in unlocking the potential of mCAs to improve understanding of the effects of ageing and accelerate translational applications for improving public health. Highlights: ● Mosaic chromosomal alterations (mCAs) are detectable in circulating leukocutes of apparently healthy adults. ● Accumulating evidence indicates mCAs could be associated with disease and mortality. ● Careful interpretation is warranted in studies of mCAs as many potential biases can result in spurious associations.