"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 L-beck and Regensburg)). The HaemGen consortium aims to identify genetic loci contributing to variation in blood measurements and uncovers the potential correlation of these loci with disease phenotypes.

"We have uncovered a novel variant linking platelet counts with heart attacks," explains Nicole Soranzo. "Further characterisation 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."

Source: Wellcome Trust Sanger Institute