NCT04931498

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

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

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Cambridge University Hospitals NHS Foundation Trust · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

The risk of cardiovascular disease is determined by the complex interplay between an individual's genetic make-up, lifestyle, and the environment. The researchers in this observational, cross-sectional, recall-by-genotype study are investigating two potential genetic risk factors; the SWAP70 gene is thought to play a role in the immune response modulating cardiovascular disease risk and the GMPR gene plays a role in red blood cell formation. The investigators hope to identify and characterise distinct molecular and cellular mechanisms underlying candidate functional variants identified in genetic studies of cardiovascular and immune-related human traits and diseases. Healthy volunteers who are part of the NIHR BioResource and have already been genotyped will be invited to the study based on their genotype of the candidate functional variants of interest. Volunteers will attend a single study visit, during which they will complete procedures including a medical, demographic and lifestyle factors questionnaire; height, weight and body fat assessments; in addition to blood pressure/heart rate measurements. A minimally invasive procedure of a venepuncture will be performed to assess the primary objectives of the study. The obtained data may (1) improve understanding of biological and disease mechanisms; (2) identify potential drug targets; and (3) improve insight into the therapeutic potential and limitations of existing and emerging therapies. This study is funded by the UK Medical Research Council, British Heart Foundation and NIHR Cambridge Biomedical Research Centre.

Conditions

• Cardiovascular Diseases

Interventions

Type	Name	Description
OTHER	Questionnaire	Medical history, demographics and lifestyle factors will be assessed by the participant.
OTHER	Anthropometric measurements: height, weight, and body fat	Height measured by stadiometer. Weight and body fat measured by Tanita scale bioelectrical impedance analysis.
OTHER	Blood pressure and heart rate	Parameters will be measured using a validated, automated device while seated and again after 3-5 min standing. All measurements will be done in triplicate.
PROCEDURE	Venepuncture (GMPR)	A blood sample of approximately 50 ml of venous blood will be taken. From the obtained blood sample, measurements will include a full blood count and the following phenotyping tests: * Flow cytometry to quantify cell surface expression of key erythroid markers * Proteomic analysis of isolated erythrocytes using mass spectrometry
PROCEDURE	Venepuncture (SWAP70)	A blood sample of approximately 50 ml of venous blood will be taken. From the obtained blood sample, measurements will include a full blood count and the following phenotyping tests: * Flow cytometry to quantify cell surface expression of key markers * Fluorescence-Activated Cell Sorting (FACS) to assess B-cell receptor signalling and to isolate cell type-specific RNA for transcriptome analysis * Immunoglobulin isotype titre analysis in plasma * Isolation of monocytes for subsequent use in phagocytosis assays

Timeline

• Start date: 2018-03-01
• Primary completion: 2026-09-30
• Completion: 2026-09-30
• First posted: 2021-06-18
• Last updated: 2025-10-03

Locations

1 site across 1 country: United Kingdom