07 September 2020

Most of the genetic variation that influences medically important characteristics of blood cells has been identified in two new large-scale genetic studies, it has been announced.

Researchers from the Wellcome Sanger Institute, the University of Cambridge, and scientists from 101 research institutions worldwide, have identified more than 7,000 regions of the human genome that control blood cell characteristics.

The studies, published last week in the journal Cell, also show for the first time how an individual’s genetic make-up is a contributor to them developing blood diseases, bringing the medical profession a step closer to using genetic scoring to predict personal risk of developing blood disorders.

In these studies, researchers analysed anonymised genomic and healthcare data from UK Biobank, and other studies from the Blood Cell Consortium (BCX), comprising participants of European, East Asian and African American ancestry.

They found 7,193 distinct genetic regions associated with 29 blood cell measurements – the largest set of correlated genetic regions identified yet – and developed polygenic scores to assess the potential for predicting blood cell traits. They found that they could use some of these polygenic scores to predict predisposition to complex diseases, including blood disorders.

One of the joint first authors, 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.”

Joint first author Parsa Akbari, from the University of Cambridge, said: “The construction of polygenic scores requires the analysis of large amounts of data. Our study shows that the performance of polygenic scores for predicting blood cell traits is improved by careful selection of a smaller set of genetic associations determined by deeper statistical analyses of the available data.

“This finding disrupts a common assumption that including a greater number of genetic associations will result in a better predictive polygenic score.”

Prof Nicole Soranzo, lead author of the study from the Wellcome Sanger Institute and University of Cambridge, said that, though further research is required, polygenic scores could be used routinely in personalised medicine in future.

“Genetics now helps us to benchmark what is ‘normal’ from birth and allows us for the first time to monitor for deviations from this baseline that might indicate an increased risk of disease during our lifetime,” she added.


Vuckovic D, Bao EL, Akbari P, Lareau C et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell, doi: 10.1016/j.cell.2020.08.008

Chen M-H, Raffield LM, Mousas A et al. (2020) “Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations.” Cell, doi: 10.1016/j.cell.2020.06.045


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