CADBIO
Research type
Research Study
Full title
Molecular investigation of genetic factors in CArDiovascular diseases using a BIOresource of healthy volunteers (CADBIO)
IRAS ID
216498
Contact name
Dirk Paul
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Summary of Research
The risk of cardiovascular disease is determined by the complex interplay between an individual’s genetic make-up, lifestyle, and the environment. We are investigating three genetic risk factors in this observational, cross-sectional, epidemiology pilot study to investigate if and how functional variants identified in large-scale genome wide association studies can explain a predisposition to cardiovascular disease. By determining the molecular mechanisms at the EDNRA, PNPLA3 and PROCR CVD risk loci, we hope to translate into the clinical setting for better diagnosis, prevention and treatment for patients suffering with cardiovascular disease. Volunteers will be entered into one of the study’s three arms based on their genotype of the single candidate functional variant at the EDNRA locus (Arm 1), PNPLA3 locus (Arm 2), or PROCR locus (Arm 3).
Healthy volunteers who are part of the NIHR Bioresource who match for the target alleles for the three genetic loci will be invited to participate in this study and will enter into three study arms. Eligible volunteers will range between aged 30-40 and will range between healthy BMI and slightly increased BMI depending on study arm.
All study assessment visits will take place at the Cambridge Biomedical Campus; either at the NIHR Bioresource, The Department of Haematology University of Cambridge or the NIHR Biomedical Research Centre. This study has funding secured from the BHF Cambridge Centre of Excellence and the Wellcome Trust Institutional Strategic Support Fund.
Volunteers will participate in the study for a maximum of 12 months and depending on study arm they are assigned to, they will complete procedures including a medical, demographic and lifestyle factors questionnaire; height, weight and body fat assessments; in addition to blood pressure and heart rate measurements. For the study arm specific assessments, minimally invasive procedures including forearm blood flow and venepuncture will be performed to assess the primary objectives of the study.
Research Summary
This study aimed to help understand how our genes affect our risk of cardiovascular disease, the leading global cause of death. Studies involving hundreds of thousands of people have identified subtle changes in the DNA code of our genes that contribute to our risk of cardiovascular disease. The challenge ahead is to understand exactly how these changes or ‘gene variants’ affect disease risk and to translate this knowledge into new treatments. The CADBIO study investigated the role of three gene variants that affect cardiovascular disease risk, called PROCR, PNPLA3 and EDNRA.REC name
East Midlands - Leicester Central Research Ethics Committee
REC reference
17/EM/0028
Date of REC Opinion
7 Feb 2017
REC opinion
Further Information Favourable Opinion