Molecular investigation of genetic factors in CArDiovascular diseases and liver disease using a BIOresource of healthy volunteers (CADBIO)
Study code
CBR145
Lead researcher
Dr Dirk Paul
Study type
Participant re-contact
Institution or company
University of Cambridge
Researcher type
Academic
Speciality area
Cardiovascular Disease, Liver
Recruitment Site
Cambridge
Summary
This 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 12 participants from the Cambridge BioResource. 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.