13 November 2023

Researchers have made new discoveries about clonal haematopoiesis with the help of data from the UK Biobank.

The work was carried out by a team led by Drs Simon Stacey and Kári Stefánsson of deCODE genetics, in Reykjavik, Iceland. They carried out whole-genome sequencing of 45,510 Icelandic and 130,709 UK Biobank participants.

To identify people with clonal haematopoiesis, they used a ‘mutational barcode’ method, in which a cell population is assigned a ‘barcode’ based on the benign mutations it has accumulated over time.

As they explain in Nature Genetics, “If a particular clone expands sufficiently, its mutational barcode becomes evident in its DNA sequence.”

Together this identified 16,306 people with clonal haematopoiesis. Identifying clonal haematopoiesis in this way did not rely upon people carrying ‘candidate preleukemic driver’ mutations, say the authors.

“This method enabled us and others to show that clonal haematopoiesis is very common, if not inevitable, in the elderly,” they report. “Moreover, most clonal haematopoiesis cases do not carry an obvious candidate preleukemic driver mutation.”

The rate of clonal haematopoiesis is approaching 50% in participants over 80 years old, they found. They also confirmed that “smoking demonstrates a dosage-dependent impact on risk of clonal haematopoiesis”.

On the other hand, contrary to published claims, “we find no evidence that clonal haematopoiesis is associated with cardiovascular disease,” they write.

Overall, “We provide evidence that clonal haematopoiesis is driven by genes that are commonly mutated in myeloid neoplasia and reaffirm the strong associations between clonal haematopoiesis, age and smoking.”


Stacey SN, Zink F, Halldorsson GH, Stefansdottir L, Gudjonsson SA, Einarsson G, Hjörleifsson G, Eiriksdottir T, Helgadottir A, Björnsdottir G, Thorgeirsson TE, Olafsdottir TA, Jonsdottir I, Gretarsdottir S, Tragante V, Magnusson MK, Jonsson H, Gudmundsson J, Olafsson S, Holm H, Gudbjartsson DF, Sulem P, Helgason A, Thorsteinsdottir U, Tryggvadottir L, Rafnar T, Melsted P, Ulfarsson MÖ, Vidarsson B, Thorleifsson G, Stefansson K.  (2023) “Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.” Nature Genetics, doi: 10.1038/s41588-023-01555-z

Link: https://www.nature.com/articles/s41588-023-01555-z

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