Investigating genetic factors in cardiovascular and immune-related diseases using healthy volunteers

Molecular Investigation of GENetic Factors in Cardiovascular and Immune-related Traits and Diseases Using a BIOresource of Healthy Volunteers

This study is trying to see how certain genes might affect heart and immune health by looking at healthy volunteers and their genetic information.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Cambridge University Hospitals NHS Foundation Trust (Academic / other)
• Locations: 1 site (Cambridge, Cambridgeshire)
• Trial ID: NCT04931498 on ClinicalTrials.gov

What this trial studies

This observational study aims to explore the genetic factors influencing cardiovascular diseases by examining healthy volunteers who have been genotyped. Researchers will focus on two specific genes, SWAP70 and GMPR, which are believed to play roles in immune response and red blood cell formation, respectively. Participants will undergo a single study visit where they will complete questionnaires and undergo various health measurements, including blood pressure and blood samples. The goal is to identify molecular mechanisms linked to genetic variants associated with cardiovascular and immune-related traits.

Who should consider this trial

Good fit: Ideal candidates for this study are healthy volunteers aged 18 and above who are carriers or non-carriers of specific genetic variants.

Not a fit: Patients with chronic diseases, including cardiovascular diseases and autoimmune diseases, may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of genetic risk factors for cardiovascular diseases, potentially leading to improved prevention strategies.

How similar studies have performed: Other studies have shown success in identifying genetic risk factors for cardiovascular diseases, making this approach promising but not entirely novel.

Eligibility criteria

Inclusion Criteria:

* Have consented to be part of the NIHR BioResource;
* Are aged 18 years and above;
* Have given written informed consent to participate in the GENBIO study;
* Are carriers or non-carriers of the candidate functional genetic variant(s) of interest.

Exclusion Criteria:

Have a chronic disease, including cardiovascular diseases, autoimmune diseases and cancer.

Additional exclusion criteria to be applied at the discretion/opinion of the CI/collaborator, based on the population of available volunteers for recall and the genetic variant of interest (e.g. allele frequency):

* Have a biological first-degree relatives (parents, brothers, sisters or children) who are suffering or have suffered from a disease/condition in the opinion of the CI/collaborator that, from a genetic standpoint, may affect the study validity;
* Are current regular smokers. Regular ex-smokers are suitable if they stopped smoking \>10 years ago (regular defined as 1 pack year in both instances);
* Have ≥3 alcoholic drinks per day;
* Have a diagnosis of hypertension, or history of consistently high blood pressure readings, e.g. \>140/90 mmHg;
* Have a diagnosis of hypercholesterolemia, or history of consistently high cholesterol levels, e.g. total cholesterol level \>6 mmol/l;
* Are obese (i.e. BMI \>30);
* Are unwilling to fast and not to consume products containing alcohol or caffeine 12 hours prior to procedures.

Where this trial is running

Cambridge, Cambridgeshire

• Department of Public Health and Primary Care — Cambridge, Cambridgeshire, United Kingdom (Recruiting)

Study contacts

• Principal investigator: Dirk Paul, PhD — University of Cambridge
• Study coordinator: Dirk Paul, PhD

Conditions Cardiovascular Diseases; Healthy Volunteers; Genetic Risk Markers for Disease; Coronary Heart Disease; Coronary Artery Disease; Immune Response; Red Blood Cells; Inflammation