07.09.20
Genetic studies reveal what influences blood and blood diseases
New research from two large-scale genetic studies have managed to identity most of the genetic variation which influences medically important characteristics of blood cells, significantly increasing our understanding of blood and blood diseases.
Researchers from the Wellcome Sanger Institute, the University of Cambridge and scientists from over 100 research institutions worldwide identified more than 7,000 regions of the human genome which control blood cell characteristics.
Published last week in peer-reviewed journal Cell, the studies show for the first time how an individual’s genetic makeup is a contributing factor to the development of blood diseases, bringing the medical profession a step closer to using genetic scoring to predict personal risk of developing blood disorders.
As part of the studies, researchers analysed anonymised genomic and healthcare data from UK Biobank, as well as other studies which comprised of participants with European, East Asian and African American ancestry.
A total of 7,193 distinct genetic regions associated with 29 blood cell measurements – the largest cell of correlated genetic regions identified yet – and developed scores to assess the potential for predicting blood cell traits. A number of these polygenic scores proved useful in predicting a patient’s predisposition to complex diseases, including blood disorders.
Dr Dragana Vuckovic from the Wellcome Sanger Institute and the NIHR Blood and Transfusion Research Unit in Donor Health and Genomics at the University of Cambridge, said: “In this study, we have been able to show how a person’s genetic predisposition to certain blood-related measurements, as indicated by their polygenic score, can predispose them to blood disease. If a person is more genetically predisposed to low haemoglobin, for example, then they are more likely to develop anaemia.”
Dr Vuckovic was one of the joint first authors of the research study.