Molecular Investigation of GENetic Factors in Cardiovascular and Immune-related Traits and Diseases Using a BIOresource of Healthy Volunteers (GENBIO)
NCT ID: NCT04931498
Last Updated: 2025-10-03
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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ACTIVE_NOT_RECRUITING
100 participants
OBSERVATIONAL
2018-03-01
2026-09-30
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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COHORT
CROSS_SECTIONAL
Study Groups
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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.
Questionnaire
Medical history, demographics and lifestyle factors will be assessed by the participant.
Anthropometric measurements: height, weight, and body fat
Height measured by stadiometer. Weight and body fat measured by Tanita scale bioelectrical impedance analysis.
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.
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
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).
Questionnaire
Medical history, demographics and lifestyle factors will be assessed by the participant.
Anthropometric measurements: height, weight, and body fat
Height measured by stadiometer. Weight and body fat measured by Tanita scale bioelectrical impedance analysis.
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.
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
Interventions
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Questionnaire
Medical history, demographics and lifestyle factors will be assessed by the participant.
Anthropometric measurements: height, weight, and body fat
Height measured by stadiometer. Weight and body fat measured by Tanita scale bioelectrical impedance analysis.
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.
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
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
Eligibility Criteria
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Inclusion Criteria
* 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 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.
18 Years
ALL
Yes
Sponsors
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University of Cambridge
OTHER
Cambridge University Hospitals NHS Foundation Trust
OTHER
Responsible Party
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Dirk Paul
Principal Investigator
Principal Investigators
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Dirk Paul, PhD
Role: PRINCIPAL_INVESTIGATOR
University of Cambridge
Locations
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Department of Public Health and Primary Care
Cambridge, Cambridgeshire, United Kingdom
Countries
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Other Identifiers
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GENBIO
Identifier Type: -
Identifier Source: org_study_id
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