A new genome-wide association study published today in Nature Genetics begins to uncover the basis of genetic variations in eight blood measurements and the impact those variants can have 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 anaemia, infection and blood cell cancers.
An international team of scientists measured haemoglobin concentration, the count and volume of red and white cells and the sticky cells that prevent bleeding - platelets, in over 14,000 individuals from the UK and Germany. They uncovered 22 regions of the human genome implicated in the development of these blood cells. Of the 22 regions, 15 had not previously been identified.
The study represents the first genome-wide association of blood measurements to be completed in cohorts with large sample sizes.
"This study has been made possible by a great collaboration of scientists from the UK and Germany, and the contribution of clinical colleagues working in the field of heart disease, diabetes and coeliac disease in the UK, Germany and the United States," explains Dr Nicole Soranzo, group leader at the Wellcome Trust Sanger Institute and co-lead of the HaemGen consortium. "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.
"This study highlights the importance of studying large collections of samples from healthy individuals where many different traits are measured."
The team compared regions of the human genome implicated in blood cell development with regions associated with risk of heart disease. By looking at the genetic data of 10,000 people with disease with that of 10,000 apparently healthy people, they foun
|Contact: Don Powell|
Wellcome Trust Sanger Institute