Cell: Identifying more than 7,000 genetic regions in the human genome that control the properties of blood cells is expected to predict the risk of rare and common blood diseases in the population.

September 10, 2020 // -- Now that two large-scale genetic studies have identified most of the genetic mutations that affect the important medical characteristics of the body's blood cells, scientists from 101 research institutions around the world, including the Sanger Institute at the University of Cambridge in the United Kingdom, have identified more than 7,000 regions in the human genome that can control the properties of blood cells, including red and white blood cells.
photo source: CC0 Public Domain, researchers explain for the first time how a person's genetic make-up induces a blood disorder, and the findings may help researchers use genetic scoring tools in clinical trials to predict an individual's risk of developing a blood disorder.
blood cells play a critical role in human health, including the body's immune response, the transport of oxygen, the formation of clotting to prevent blood loss from wounds, and blood disorders such as anemia, haemophilia and blood cancer may be an important burden on global health.
Many of these diseases are considered extremes of normal biological conditions, such as anemia, in which the patient's body tends to suffer from hypoxia due to too few red blood cells, which may also be caused by small mutations in the body's DNA, some of which also increase the risk of disease in the individual.
by comparing the DNA sequences and differences of a large number of participants, researchers may be able to shed light on how these genetic mutations translate into physical properties of the body, including the risk of multiple diseases, such as anemia, heart disease and haemophilia. In the
study, researchers analyzed anonymous individual genome and health care data from the British Biosatric Library, as well as data from other studies by the Blood Cell Alliance (BCX), involving participants from European, East Asian and African-American populations, and found 7,193 different genetic regions associated with 29 blood cell measurement parameters, the largest set of related genetic regions ever discovered by scientists.
Then the researchers evaluated the likelihood of predicting blood cell characteristics based on a multigene scoring system, which is often used to predict a person's risk of disease compared to another based on differences in DNA composition, and found that the multigene scoring system could help predict an individual's susception to complex diseases, including blood disorders.
researcher Dragana Vuckovic points out that in this study, we revealed how a person's genetic predisposition to specific blood-related parameters,as indicated by multiple gene scores, makes them susceptible to blood disease, and that a person may be more likely to develop anemia if they are more likely to exhibit lower levels of hemoglobin in their genetic characteristics.
As with DNA mutations, environments, and other factors involved in complex diseases such as anemia or haemophilia, the analysis conducted by the researchers in this study may improve the performance of the multigene scoring system and increase its potential as a potential tool to help predict an individual's risk of disease." The construction of a
-gene scoring system requires the analysis of large amounts of data, and the results suggest that by conducting more in-depth statistical analysis of existing data and carefully selecting a smaller portion of the genetic association, it may be necessary to improve the performance of the multigene scoring system in predicting blood cell characteristics, a finding that also breaks the most common hypothesis among researchers that using a large number of genetic associations may lead to better multi-gene prediction scores. Nicole Soranzo, a researcher at
, said the results suggest that in further studies, multigene scoring systems may be routinely used in individualized drugs, and that each body's DNA contains millions of mutations that make us unique and affect our daily lives, and that genetics can now help us determine birth standards and monitor baseline deviations that may indicate an increased risk of disease in our lifetimes.
original source: Dragana Vuckovic, Erik L. Bao, Parsa Akbari, et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases, Cell (2020) doi:10.1016/j.cell.2020.08.008.