New Insight into the Genetic Mechanisms of Red Blood Cell Formation

By means of a genome-wide association study (GWAS), researchers have identified 75 gene loci that play a role in human red blood cell formation, enabling them to take a closer look at hematological abnormalities such as anemia. 

Disturbances in red blood cell formation often lead to anemia. This is a common condition that can cause cognitive impairment, growth retardation, and impaired physical capacity. Scientists of the Institutes of Genetic Epidemiology, Epidemiology I, and Epidemiology II of Helmholtz Zentrum München have been instrumental in the identification of a total of 75 independent loci that play an important role in human red blood cell formation.For this purpose, a genome wide association study (GWAS) was carried out on 135 000 individuals.

For 43 of the identified 75 genes, no association with parameters of erythrocytes (red blood cells) had hitherto been detected. The identified genetic loci contribute to the variance of the properties of the erythrocytes in the general population. In collaboration with research groups from the UK and the Netherlands, the research groups led by Christian Gieger and Janina Ried of the Institute of Genetic Epidemiology, Christine Meisinger of the Institute of Epidemiology II and Angela Döring of the Institutes of Epidemiology I and II studied a total of six parameters of red blood cells, including the number and size of the erythrocytes and the hemoglobin values.

Further biological analyses provided insights into biological mechanisms and signaling pathways in the formation and function of erythrocytes, which shall be studied in more detail in future research projects. These findings may then also contribute to a deeper understanding of genetic abnormalities of blood cells and congenital forms of anemia. In subsequent studies, the researchers want to identify genetic factors influencing clinically relevant abnormalities of the red blood cells.

Genome wide association studies (GWAS) are advanced ­analysis techniques used to detect genetic differences between ­healthy subjects and people with conditions such as anemia or ­diabetes. The aim is to identify associations between genetic ­variations and external characteristics and thus to identify genetic risk factors for the ­development or course of a disease.