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Blood counts are clues to human disease
Date:10/11/2009

d that one of the genetic variants associated with platelet counts also 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 analysis showed that these genetic risk factors are uniquely found in individuals of European origin. By comparing human data with genetic data from chimpanzees, the team were able to conclude that the genetic variant was the result of a selection event favouring variants that increase the risk of heart disease, coeliac disease and type 1 diabetes in European populations 3,400 years ago. The authors suggest that the risk factors were positively selected for because they gave carriers an increased protection against infection.

"The study of blood traits is challenging because of the difficulty of teasing apart biological processes underlying the origin of blood cells," explains Dr Christian Gieger, Head of the Genetic Epidemiology research unit at the Helmholtz Zentrum and co-lead of the HaemGen consortium. "Until now, few genome-wide association studies have looked beyond single traits. But, through a systematic analysis of correlated traits we can begin to discover such shared genetic variants, forming the basis for understanding how these processes interact to influence health and disease.

"Using these techniques, we can now begin to understand the complex genetic basis of a whole variety of human diseases."

Scientists at the Wellcome Trust Sanger Institute, UK and the Helmholtz Zentrum Munich, Germany initiated the European HaemGen consortium, which encompasses groups from the UK (TwinsUK-KCL, NHS Blood and Transplant (NHSBT), University of Cambridge and University of Leicester) and Germany (Study of Health in Pomerania (SHIP) in Greifswald, the KORA study in the region of Augsburg and GerMIFS (University of Lbeck an
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Contact: Don Powell
press.officer@sanger.ac.uk
44-122-349-6928
Wellcome Trust Sanger Institute
Source:Eurekalert

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