Cardiovascular DiseasesGENBIONCT04931498
Molecular Investigation of GENetic Factors in Cardiovascular and Immune-related Traits and Diseases Using a BIOresource of Healthy Volunteers (GENBIO)
An observational study of Cardiovascular Diseases, run by Cambridge University Hospitals NHS Foundation Trust at 1 site in United Kingdom.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Cardiovascular Diseases
- What is being tested?
- Questionnaire, Anthropometric measurements: height, weight, and body fat and Blood pressure and heart rate
- Type of treatment
- Surgery or procedure
- How many people
- 100 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 Mar 2018to 30 Sep 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 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).
Who may be able to join
- 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.
Who cannot join
- 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;
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- 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.
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site
Department of Public Health and Primary Care
Cambridge, Cambridgeshire, CB1 8RN
About this study
Official title: Molecular Investigation of GENetic Factors in Cardiovascular and Immune-related Traits and Diseases Using a BIOresource of Healthy Volunteers
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.
Read more
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
- Being tested
- Questionnaire, Anthropometric measurements: height, weight, and body fat, Blood pressure and heart rate, Venepuncture (GMPR), Venepuncture (SWAP70)
- Keywords
- Healthy Volunteers, Genetic Risk Markers for Disease, Coronary Heart Disease, Coronary Artery Disease, Immune Response, Red Blood Cells, Inflammation
- Medical subject headings
- Cardiovascular Diseases, Coronary Disease, Coronary Artery Disease, Inflammation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
QuestionnaireOther
Medical history, demographics and lifestyle factors will be assessed by the participant.
Anthropometric measurements: height, weight, and body fatOther
Height measured by stadiometer. Weight and body fat measured by Tanita scale bioelectrical impedance analysis.
Blood pressure and heart rateOther
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.
Venepuncture (GMPR)Procedure or surgery
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
Venepuncture (SWAP70)Procedure or surgery
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
| Study group | Role | What they receive |
|---|---|---|
| GMPR sub-study | 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. Receives: Other: Questionnaire; Other: Anthropometric measurements: height, weight, and body fat; Other: Blood pressure and heart rate; Procedure: Venepuncture (GMPR) | |
| SWAP70 sub-study | 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). Receives: Other: Questionnaire; Other: Anthropometric measurements: height, weight, and body fat; Other: Blood pressure and heart rate; Procedure: Venepuncture (SWAP70) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Levels of GMPR protein in isolated erythrocytes
GMPR-specific measurement to be assessed by mass spectrometry, comparing results between different GMPR genotypic groups.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: At baseline
Secondary outcomes (2)
Blood pressure (systolic and diastolic)
All study arms comparing results between genotypic groups.
Measured: At baseline
Heart rate
All study arms comparing results between genotypic groups.
Measured: At baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jun 2021
- Study start1 Mar 2018
- Primary completion30 Sep 2026 (estimated)
- Study completion30 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cardiovascular DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Cambridge University Hospitals NHS Foundation Trust
- Sponsor type
- University, hospital or other
- Collaborators
- University of Cambridge
- Responsible party
- Principal investigator, Dirk Paul, University of Cambridge
- Investigators
- Dirk Paul, PhD, Principal investigator, University of Cambridge
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04931498
- Sponsor's protocol ID
- GENBIO
- Acronym
- GENBIO
- Status last verified
- Sep 2025
- First submitted
- 4 Jun 2021
- Last updated
- 3 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Study at a glance
From the registry record, last updated by the sponsor on 3 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Investigation of GENetic Factors in Cardiovascular and Immune-related Traits and Diseases Using a BIOresource of Healthy Volunteers
- ClinicalTrials.gov ID
- NCT04931498
- Acronym / sponsor ID
- GENBIO / GENBIO
- Conditions
- Cardiovascular Diseases
- Keywords
- Healthy Volunteers, Genetic Risk Markers for Disease, Coronary Heart Disease, Coronary Artery Disease, Immune Response, Red Blood Cells, Inflammation
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Cambridge University Hospitals NHS Foundation TrustUniversity, hospital or other
- Collaborators
- University of Cambridge
- Study start
- 1 Mar 2018 (actual)
- Primary completion
- 30 Sep 2026 (estimated)
- Study completion
- 30 Sep 2026 (estimated)
- First posted
- 18 Jun 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| GMPR sub-study | – | Other: Questionnaire, Other: Anthropometric measurements: height, weight, and body fat, Other: Blood pressure and heart rate, Procedure: Venepuncture (GMPR)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. |
| SWAP70 sub-study | – | Other: Questionnaire, Other: Anthropometric measurements: height, weight, and body fat, Other: Blood pressure and heart rate, Procedure: Venepuncture (SWAP70)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). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 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).
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (9 listed)
- 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;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| QuestionnaireMedical history, demographics and lifestyle factors will be assessed by the participant. | Other | GMPR sub-study, SWAP70 sub-study |
| Anthropometric measurements: height, weight, and body fatHeight measured by stadiometer. Weight and body fat measured by Tanita scale bioelectrical impedance analysis. | Other | GMPR sub-study, SWAP70 sub-study |
| Blood pressure and heart rateParameters will be measured using a validated, automated device while seated and again after 3-5 min standing. All measurements will be done in triplicate. | Other | GMPR sub-study, SWAP70 sub-study |
| 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 or surgery | GMPR sub-study |
| 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 | Procedure or surgery | SWAP70 sub-study |
Primary outcome
Levels of GMPR protein in isolated erythrocytes
Time frame: At baseline
GMPR-specific measurement to be assessed by mass spectrometry, comparing results between different GMPR genotypic groups.
Levels of SWAP70 protein in immune cell subsets
Time frame: At baseline
SWAP70-specific measurement to be assessed by flow cytometry, comparing results between SWAP70 genotypic groups.
Proportion of immune cell types as measured using flow cytometric analysis
Time frame: At baseline
SWAP70-specific measurement to be assessed by flow cytometry (e.g. lymphoid and myeloid cell markers), comparing results between SWAP70 genotypic groups.
Levels of genes/transcripts in immune cell subsets
Time frame: At baseline
SWAP70-specific measurement to be assessed by RNA sequencing, comparing results between SWAP70 genotypic groups.
Concentration of immunoglobulin isotypes in plasma
Time frame: At baseline
SWAP70-specific measurement to be assessed by immunoglobulin isotype (IgM, IgG, IgA and IgE) analysis, comparing results SWAP70 genotypic groups.
Phagocytosis by monocytes as measured by colorimetric analysis (optical density)
Time frame: At baseline
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.
2 secondary outcomes
Blood pressure (systolic and diastolic)
Time frame: At baseline
Heart rate
Time frame: At baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Oct 2025.
- Individual participant dataSharing planned: 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Dirk Paul, PhD principal investigator
University of Cambridge
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cardiovascular Diseases, run by Cambridge University Hospitals NHS Foundation Trust at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 3 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Levels of GMPR protein in isolated erythrocytes (time frame: At baseline). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Oct 2025.