New genetic variants have been identified that increase the likelihood of developing clonal hematopoiesis, which is a risk factor for multiple diseases, including blood cancer 14 inherited genetic variants have been identified which significantly increase the risk of a person developing a blood disorder that is associated with the onset of some types of cancer and heart disease.
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The new research, led by scientists from the Wellcome Sanger Institute, the Universities of Bristol and Cambridge, the Health Research Institute of Asturias in Spain, and AstraZeneca, discovered multiple inherited genetic variants that increase the likelihood of developing clonal hematopoiesis, which is a risk factor for multiple diseases including blood cancer.
The study, published in Nature Genetics is one of the largest of its kind, analyzing data from 421,738 people, and could pave the way for potential new approaches for the prevention and early detection of cancers including leukaemia.
All human cells acquire genetic changes in their DNA throughout life, known as somatic mutations, with a specific subset of somatic mutations driving cells to multiply. This is particularly common in blood-making cells, known as blood stem cells, and results in the growth of populations of cells with identical mutations known as ‘clones.’
Clonal haematopoiesis is a condition characterised by the development of expanding clones of multiplying blood cells in the body, driven by mutations in their DNA.1
Although symptomless, the disorder becomes ubiquitous with age and is a risk factor for developing blood cancer and other age-related diseases.1
Using data from the UK Biobank, a large-scale biomedical database and research resource containing genetic and health information from half a million UK participants, the team were able to show how genetic mutations relate to blood cancers and tumours that develop elsewhere in the body such as lung, prostate, and ovarian cancer.
The team found that clonal haematopoiesis accelerated the process of biological ageing and influenced the risk of developing atrial fibrillation, a condition marked by irregular heartbeats.
The findings also clearly established that smoking is one of the strongest modifiable risk factors for developing the disorder, emphasising the importance of reducing tobacco use to prevent the condition’s onset and its harmful consequences.
Source: Sanger Institute