Genetic study designs are largely determined by the availability of an appropriate study population or the possibility of recruiting a target population.
The BRC IGE-PCV forms the bedrock of our research unit and provides the biobanks, data and technology needed to conduct investigations on cohorts and various sets of populations.
It consists of several populations/data sets (the conditions of access are laid down in the BRC's rules of procedure):
- The STANILAS cohort, the initial population which is also the most commonly used for our research activities, consists of 1,006 European families. An extensive collection of biological samples is available for this cohort (in particular DNA, PBMCs and RNA), as well as clinical data/body measurements and questionnaires (nutritional data, life style), collected during the 3 follow-up visits. A subset of 670 unrelated children from this population was genotyped using an Illumina chip (318,000 SNPs). (download articles 1 & 2)
- A pediatric cohort collected in Greece consisting of 40 children with serum/plasma samples, DNA, PBMCs, adipocytes and clinical data/body measurements.
- A pediatric cohort from the GENDAI study (GeNe and Diet Attica Investigation) consisting of 1,138 children (peri-adolescents) who live in the administrative region of Attica in Greece.
- A population of 441 patients with acute coronary syndrome treated with clopidogrel (Liverpool population) and a population with similar conditions of French origin (n=1424 adults) (Marseille population)
- A cohort of 280 healthy elderly individuals from Greece (GHRAS )
- A case-control population of women with pre-eclampsia from Iran (Preeclampsia population)
- A case-control population of 460 H.Pylori infected individuals (Lebanese population)
- A case-control population of 397 adults with autoimmune thyroid diseases (Tunisian population)
- A European population of patients with non-alcoholic fatty liver disease following a double-blind intervention for 6 months with Mastiha supplements or placebo (MAST4HEALTH)
Various other populations are also available to our team, either as part of specific research projects or for genome-wide association replication studies, as a result of our collaboration with the MAGIC Consortium (Meta-Analyses of Glucose and Insulin-related traits Consortium), the largest GWAS consortium for glucose related traits, the CHARGE - Inflammation Consortium (Cohorts for Heart and Aging Research in Genomic Epidemiology), the CNRS UMR 8099 unit in Lille, France and the National Heart, Lung and Blood Institute in Boston, USA. The availability of these populations is subject to agreements individually negotiated for each project. These populations are:
- A cohort of obese children (with a BMI above the 97th percentile for French children of the same age and sex) from 449 nuclear families with at least one obese child.
- The VERONA pediatric cohort consisting of Italian children recruited from the general population of the town of Verona. Target families were randomly selected from the city's municipal records and contacted by regular mail.
- The Northern Finland 1986 Birth Cohort (NFBC86): a prospective cohort of pregnant Finnish women of European origin expected to give birth to a child between 1st July 1985 and 30th June 1986 in two regions of Finland. The data collected 16 years ago is available.
- The third-generation cohort of the Framingham Heart Study (FHS), i.e. 4,095 subjects who had at least one parent in the Offspring Study.
- The Prospective Investigation of the Vasculature in Upssala Seniors (PIVUS) study.
The following table summarizes the main research projects conducted on the populations available at the CRB IGE-PCV. Collections integrated in the BRC for externational collaborations are identified by the prefix C-
|
COLLECTION (C) |
DESCRIPTION OF THE POPULATION |
TITLE OF THE RESEARCH PROJECT |
PROJECT STATUS O (ongoing) or C (completed) |
Key words |
|
BB-0033-00051 C001 : STANISLAS Cohort |
The STANISLAS Cohort consists of a population of subjects who visited the practitioners of the Centre de Médecine Préventive (Center for Preventive Medicine) at Vandoeuvre-lès-Nancy, i.e. subjects from the Vosges, Meurthe and south Moselle counties in France. Following a feasibility study conducted in 1993, 1,006 families were selected and enrolled from 1993-1995. Families consisted of two parents with at least two of their biological children aged 6 years or older, i.e. in total 4,295 subjects. In 1999-2000, the families were asked to attend a second visit. 754 families replied positively (2,952 subjects). All families were again solicited for a third assessment in 2003-2005. In all 1,200 subjects from 357 families attended the third assessment. In 2009, an agreement was reached between the CMP, INSERM and Lorraine University and the teaching hospital of Nancy became the sponsor of the study. The study was continued with a 4th visit that was conducted by the Centre d'Investigation Clinique (Clinical Investigation Center, CIC) at Nancy. |
RP1: BioIntelligence Project: from the STANISLAS Cohort to pharmacogenetics |
O |
STANISLAS Cohort, genetic studies, transcriptomics, pharmacogenetics, software |
|
RP2: Functional genomics of intermediary phenotypes for cardiovascular risk |
O |
Family study, NGS, EWAS, transcriptomics |
||
|
RP3: Telomere length genetics |
O |
Genetics, telomere length |
||
|
RP4: Genetics of cardiovascular risk, telomeres and the role of inflammation |
O |
Genetics, telomeres, inflammation |
||
|
RP5: Haptoglobin GWAS in a pediatric population |
C |
GWAS, inflammation markers, children |
||
|
RP6: VEGF GWAS - replication |
O |
GWAS, adhesion markers |
||
|
RP7: Obesity GWAS – control population |
C |
GWAS, obesity |
||
|
RP8: PheWAS, genetic markers of inflammation |
O |
PheWAS, inflammation |
||
|
RP9: PheWAS, genetic markers of VEGF |
O |
PheWAS, VEGF |
||
|
RP10: Epistatic interactions and gene-environment interactions regulating blood pressure |
O |
Epistasis, gene-environment interactions, blood pressure |
||
|
BB-0033-00051 C002 : GHRAS population |
Elderly population |
Greek Health Randomized Aging Study |
C |
Elderly, genetics, nutrition |
|
BB-0033-00051 C003 : Marseille population |
Patients with acute coronary syndrome |
Clopidogrel collaborative study |
C |
CVD, pharmacogenomics |
|
BB-0033-00051 C-C004 : GENDAI |
GENDAI: The GeNe and Diet Attica Investigation The GENDAI cohort is a pediatric population consisting of children from the administrative region of Attica in Greece. 1,138 peri-adolescents were recruited from randomly selected primary schools from November 2005 to June 2006. The following data were collected for 419 children (average age: 11 years): Hp, BMI, cholesterol - total, HDL and LDL, apolipoprotein A1 and B. |
RP1: Haptoglobin replication study |
C |
Haptoglobin, children |
|
RP2: BioIntelligence Project: from the STANISLAS Cohort to pharmacogenetics (replication population) |
O |
replication, genetic studies, pharmacogenetics, software |
||
|
BB-0033-00051 C-C005 : Pediatric population |
40 Greek children with serum/plasma, DNA, PBMCs, adipocypes and clinical/anthropometric data. |
RP1: Genetic of obesity in children |
O |
Genetics, children, obesity |
|
RP2: Genetics of blood pressure and interactions with obesity in children |
O |
Genetics, children, blood pressure, gene-environment interactions |
||
|
RP3: BioIntelligence Project: from the STANISLAS Cohort to pharmacogenetics (replication population) |
O |
Replication, genetic studies, transcriptomics, pharmacogenetics, software |
||
|
BB-0033-00051 C-C006 : Iranian population |
The Iranian population consisted of 300 subjects enrolled in Iran. |
RP1: VEGF and metabolic syndrome |
O |
VEGF, metabolic syndrome |
|
BB-0033-00051 C-C007 : Liverpool Population |
The aim of this study is to investigate the effect of clopidogrel on mortality, myocardial infarction, stroke, bleeding and heart failure following acute coronary syndrome in subjects with different genetic variants. This prospective study includes 1,500 subjects who had have acute coronary syndrome. Participants will be followed over a period of at least one year. Some of the subjects (600) have now been monitored for 12 months. Available information consists of biological data (in particular inflammation markers), as well as clinical and genetic data. |
RP1: CYP 2C19 variants and clopidogrel |
O |
CYP 2C, clopidogrel, pharmacogenomics |
|
BB-0033-00051 C-C008: Preeclampsia population |
Cases-controls of preeclampsia | VEGF and VEGF genetics and pre-eclampsia | O | Pre-eclampsia,genetics, VEGF |
|
BB-0033-00051 C-C009: Lebanese population |
Cases-controls with infection H.pylori | Genetic determinants of H.Pylori infection and related factors | O | Genetics, H.Pylori |
|
BB-0033-00051 C-C010: Tunisian population |
Populations of autoimmune thyroid disease | VEGF genetics and transcriptomics and autoimmune thyroid disease | C | Grave's disease, Hashimoto disease, VEGF |
|
BB-0033-00051 C-C011: MAST4HEALTH |
NAFLD patients | Mastiha treatment for obese with NAFLD diagnosis | O | Mastiha, VEGF, inflammation, clinical trial, fatty liver disease |