Molecular investigation of GENetic factors in cardiovascular disease and clotting factors using a BIOresource of healthy volunteers (GENBIO)

Summary

Our study aims to determine the distinct molecular mechanisms underlying functional genetic variants identified in large-scale genome-wide association studies (GWAS) for cardiovascular disease. We will measure a range of cellular and physiological indicators in healthy volunteers who carry such functional variants versus those who do not, at one of three genetic regions of interest (PNPLA3, PROCR and EDNRA). Results from this study will reveal novel insights into the pathophysiology of cardiovascular disease, potentially leading to better diagnosis, tailored prevention and treatment of the disease. 

Participation: For this study we recruited 52 participants from the Cambridge BioResource from two different genotype groups. The groups were matched for age and sex. Volunteers attended a single appointment where they gave a small blood sample, filled out a questionaire as well as having their blood pressure and heart rate measured. Visits took place at the Cambridge BioResource's clinical facility on the Cambridge Biomedical campus.

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