Cardiovascular Diseases, Chronic Renal Failure, Gastrointestinal Diseases, Haematologic Disease, Healthy, Metabolic Disease, Neurologic Disorder, Psychiatric Disorder, Respiratory Disease, Rheumatologic Disease
Conditions
Brief summary
The aim of GENESIS clinical study is to map the HLA genomic region in the Greek population and evaluate possible correlations with selected underlying diseases.
Detailed description
The GENESIS study is a multicenter, prospective, non-interventional, clinical study with a target of 12,000 subjects and an anticipated total duration of 36 months. The aim of study GENESIS is to provide a pilot map of HLA genetic variation in the Greek population in order to be used in medical research and for possible clinical applications (evaluation of possible correlations with selected underlying diseases). During the study, each subject will conduct one visit to the participating cite, in which they will provide: 1. Demographic information \[i.e. date of birth, gender, race, ancestry (including information about the subject's grandparents' birthplace), height, weight\], 2. Other information about smoking/vaping, alcohol consumption, arterial blood pressure, diagnosed diseases (if any), current treatments (if any), and 3. Recent (up to 12 months prior to sample collection) results if/when are available from clinical lab tests such as blood count (Hct, Hb, RBC, WBC, PLT count), including a metabolic panel, liver enzymes and biochemical parameters (Glu, HbA1c, TC, TG, LDL-C, HDL-C, ALT, AST, ALP, γGT, bilirubin, LDH, insulin, C-peptide). Upon completion of the data registry, two buccal swabs will be collected per subject and they will be stored at ALTP premises until their shipment to Galatea.Bio. All buccal swab samples will be subjected to genetic material (DNA) extraction. The DNA samples will be further proceeded for HLA genotyping analysis. A follow up analysis will be performed in selected DNA samples via full low-pass whole genome sequencing (LP-WGS), which aims to further investigate the association between the HLA region and autoimmune diseases. Upon completion of the analysis, an individualized ancestry report will be securely made available to all study subjects which they can access, as and if they elect to.
Interventions
None listed
Sponsors
Galatea.Bio
Athens LifeTech Park
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
The study will include adult subjects (age ≥ 18) that: * possess a Greek social security number and are visiting hospitals/clinics, and/or other private laboratory institutions (incl. clinics and health care groups) as part of standard clinical practice in Greece, * are willing and able to provide written informed consent to participate in the study according to the study protocol.
Exclusion criteria
* Subjects not able to provide written informed consent (e.g. ICU patients, mental illness patients, lack of legal capacity). * Subjects who have had an allogeneic (non-self-donor): * bone marrow transplant * stem cell transplant * blood transfusion less than two weeks prior to buccal swab sample collection * liver transplant * Subjects who participated in an interventional clinical trial in the past that according to the subject's physician opinion might have had an impact on their HLA genome.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Allele frequency of HLA-alleles at the Greek population level | 36th month | To assess the HLA allelic diversity of Greek population |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of selected HLA-related diseases in the Greek population | 36th month | Characterization of the allelic and haplotypic HLA frequency distribution in the Greek population and comparison with global HLA databases. |
| Relative Risk (Risk Ratio (RR) or Odds Ratio (OR)) of HLA markers on diseases of interest | 36th month | Evaluation of the association between HLA alleles and/or haplotypes, and selected diseases |
Countries
Greece
Contacts
Primary ContactEfi Giannopoulou
Outcome results
None listed