CBR158

Genotype-based recall study to elucidate a genetic association signal with coronary disease at the endothelin receptor A locus

Cardiovascular Disease
  • Lead ResearcherDr Dirk S Paul
  • Study TypeParticipant re-contact
  • InstitutionUniversity of Cambridge
  • Researcher TypeAcademic

Study summary

Molecular investigation of genetic factors in cardiovascular diseases using a Bioresource of healthy volunteers (CADBIO)” led by Dr Dirk Paul at the Department of Public Health and Primary Care. 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.