17 May 2024

British researchers have announced the discovery of 17 new genes linked to clonal haematopoiesis.

A team led by Cambridge researchers hope their findings will open new routes for studying the molecular mechanisms underlying the phenomenon and its role in disease development. This could lead to new ways to promote healthy ageing, they say. It could also lead to improved genetic tests to identify the risk of blood cancers.

Previous studies have found about 70 genes linked to clonal haematopoiesis. However, most recent cases of clonal haematopoiesis studied recently do not involve mutations in any of these known genes, the researchers say.

Scientists at the Wellcome Trust Sanger Institute, the University of Cambridge, and Calico Life Sciences in California, used data from over 200,000 people in the UK Biobank for their study. They say that the discoveries increased the prevalence of identified clonal haematopoiesis in the UK Biobank cohort by 18%. The new genes have been linked to inflammation and immunity, they report in Nature Genetics.

Researcher Dr Michael Spencer Chapman, of the Wellcome Sanger Institute, said: “While existing genetic tests have been valuable for early disease detection, our findings suggest there are opportunities to improve them further. By incorporating these 17 additional genes linked to clonal haematopoiesis, we can enhance genetic testing methods to better identify risks of associated blood cancers and cardiovascular diseases.”

Dr Jyoti Nangalia, one of the co-leaders of the study who is based at both the Cambridge institutions, said: “Our study reveals a much broader set of genes fuelling mutant blood cell clone accumulation with age, but this is only the beginning. Larger studies across diverse populations are needed to identify remaining driver genes and provide further insights into this process and disease links.”


Bernstein N, Spencer Chapman M, Nyamondo K, Chen Z, Williams N, Mitchell E, Campbell PJ, Cohen RL, Nangalia J. (2024) “Analysis of somatic mutations in whole blood from 200,618 individuals identifies pervasive positive selection and novel drivers of clonal hematopoiesis.” Nature Genetics, 14 May 2024, doi: 10.1038/s41588-024-01755-1

Link: https://www.nature.com/articles/s41588-024-01755-1


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