According to studies, researchers claim to have uncovered the basis of genetic variations vital to the formation of blood cells, which can have a significant impact on common human diseases.
Blood measurements, including the number and volume of cells in the blood, are routinely used to diagnose a wide range of disorders, including anemia, infection and blood cell cancers.
AdvertisementIn the new study involving 14,000 individuals, researchers from UK and Germany measured the hemoglobin concentration, the count and volume of red and white cells and the sticky cells that prevent bleeding - platelets.
They found 22 regions of the human genome implicated in the development of these blood cells, of which 15 were previously unknown.
"This unique collaboration has allowed us to discover novel genetic determinants of blood cell parameters, providing important insights into novel biological mechanisms underlying the formation of blood cells by the blood stem cells and their role in disease," Nature Genetics quoted Dr Nicole Soranzo, group leader at the Wellcome Trust Sanger Institute and co-lead of the HaemGen consortium as saying.
The researchers further compared the regions of human genome implicated in blood cell development with regions associated with risk of heart disease.
They found that one of the genetic variants associated with platelet counts causes an increased risk of heart disease.
The new variant was found in a region of the genome already known to influence the risk of hypertension, coeliac disease and diabetes in children and young adults, or so-called type 1 diabetes.
"Further characterization of the regions uncovered in this study has the potential to improve our understanding of how blood cell development is linked with human diseases, including blood cell cancers," said Soranzo.
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