An observational study in Cardiovascular Diseases, sponsored by Cambridge University Hospitals NHS Foundation Trust. Active, not recruiting at 1 site in United Kingdom. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-10-03.
Sponsored by Cambridge University Hospitals NHS Foundation Trust · Observational
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.
4,904 studies on the registry are indexed under Cardiovascular Diseases; 919 are open to participants now.
This study's planned enrollment of 100 is below the median of 573 across 1,485 observational studies indexed under Cardiovascular Diseases.
Browse Cardiovascular Diseases studies →Cambridge University Hospitals NHS Foundation Trust is the lead sponsor of 167 studies on the registry; 37 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The study will only recruit healthy volunteers who have previously consented to being contacted for future studies by the NIHR Cambridge BioResource, which is a panel of around 20,000 volunteers, both with and without health conditions, who are willing to be approached to participate in research studies investigating the links between genes, the environment, health and disease. Volunteers who join the NIHR BioResource have donated their DNA via a blood or saliva sample that is used together with other information, such as sex and ethnicity, to match them to specific research studies. Participants for this study are identified by having the appropriate genetic sequence in one of the two genetic loci we are investigating (SWAP70, GMPR).
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):
Study population will be split into five haplotypes based on a combination of rare and common variants at the GMPR locus. A total of 26 volunteers per genotypic group in a comparison between heterozygous and homozygous individuals will be tested.
Other: Questionnaire · Other: Anthropometric measurements: height, weight, and body fat · Other: Blood pressure and heart rate · Procedure: Venepuncture (GMPR)
To assess genotype-specific effects on SWAP70 protein levels as well as coronary artery disease-related immune processes, we will recruit 50 volunteers stratified by variant genotype, i.e. major and minor homozygotes only (25 participants will be recruited to each group).
Other: Questionnaire · Other: Anthropometric measurements: height, weight, and body fat · Other: Blood pressure and heart rate · Procedure: Venepuncture (SWAP70)
Medical history, demographics and lifestyle factors will be assessed by the participant.
Height measured by stadiometer. Weight and body fat measured by Tanita scale bioelectrical impedance analysis.
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.
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
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
Levels of GMPR protein in isolated erythrocytes
GMPR-specific measurement to be assessed by mass spectrometry, comparing results between different GMPR genotypic groups.
Time frame: At baseline
Levels of SWAP70 protein in immune cell subsets
SWAP70-specific measurement to be assessed by flow cytometry, comparing results between SWAP70 genotypic groups.
Time frame: At baseline
Proportion of immune cell types as measured using flow cytometric analysis
SWAP70-specific measurement to be assessed by flow cytometry (e.g. lymphoid and myeloid cell markers), comparing results between SWAP70 genotypic groups.
Time frame: At baseline
Levels of genes/transcripts in immune cell subsets
SWAP70-specific measurement to be assessed by RNA sequencing, comparing results between SWAP70 genotypic groups.
Time frame: At baseline
Concentration of immunoglobulin isotypes in plasma
SWAP70-specific measurement to be assessed by immunoglobulin isotype (IgM, IgG, IgA and IgE) analysis, comparing results SWAP70 genotypic groups.
Time frame: At baseline
Phagocytosis by monocytes as measured by colorimetric analysis (optical density)
SWAP70-specific measurement to be assessed by phagocytosis assays, comparing results between SWAP70 genotypic groups. The phagocytosis assay uses pre-labelled Zymosan particles as a pathogen for triggering phagocytosis. The engulfed Zymosan particles react with a specific substrate to produce a signal that can be detected by colorimetric analysis.
Time frame: At baseline
Blood pressure (systolic and diastolic)
All study arms comparing results between genotypic groups.
Time frame: At baseline
Heart rate
All study arms comparing results between genotypic groups.
Time frame: At baseline
Plan to share: No — Participant identifiable information is securely held, with restricted access, by the NIHR BioResource. Members of the research team carrying out the procedures will not be able to request the link to decode this information. Only the minimum required participant identifiable information (name and contact details) will be provided to the research team for the purpose of arranging study visits and completing the informed consent process. All research personnel will be sufficiently blinded of the genotype status of the healthy volunteers. All delegated research personnel that is responsible to conduct the data/statistical analysis will only analyse data that is anonymised of any patient identifiable data.
No publications or documents are linked to this record.
This study is active, not recruiting, as verified in Sep 2025. You cannot join it, but the record below documents what was studied.
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Cambridge University Hospitals NHS Foundation Trust