Molecular investigation of genetic factors in cardiovascular and immune-related traits and diseases using a bioresource of healthy volunteers (GENBIO)

Study code

Lead researcher
Dr Dirk Paul

Study type
Participant re-contact

Institution or company
University of Cambridge

Researcher type

Speciality area
Cardiovascular Disease

Recruitment Site


Red blood cells play a critical role in oxygen transport. Identifying the genetic factors and molecular mechanisms influencing red blood cell characteristics is important for understanding their development and roles in related diseases such as anaemia.

Here, we investigated the GMPR gene, which has been found to contain common and rare genetic changes associated with haemoglobin levels and red blood cell traits. In our study, 29 healthy volunteers from the NIHR BioResource donated a blood sample, in which we performed biomarker analysis. We found that volunteers with the rare variant had lower GMPR protein levels compared to controls (those without the rare variant). We also discovered that the rare variant affected the levels of several metabolites in the pathway through which the GMPR protein acts. We performed protein network analysis to investigate possible links to haemoglobin production.

The next steps will be to validate our findings. Results from this study will advance our understanding of disease mechanisms with the potential to inform future therapeutic development.

We are very grateful to the individual volunteers from the NIHR BioResource who provided blood samples to enable us to undertake this work.


Participation: For this study we recruited 34 volunteers to attend a single appointment where they gave a 50ml blood sample

Organisation: This study is organised by Dr Dirk Paul at the School of Clinical Medicine at Cambridge University.