Estonian Genome Project (EGP)

The Estonian Biobank is the population-based biobank of the Estonian Genome Centre of the University of Tartu (EGCUT). The entire project is conducted according to the Estonian Gene Research Act and all of the participants have signed broad informed consent (www.biobank.ee) (Metspalu 2004, Drug Dev. Res.). The cohort size is currently (February 2014) 51 535 people (gene donors) from 18 years of age and up, which closely reflects the age, sex and geographical distribution of the Estonian population. Estonians represent 83%, Russians 14% and other nationalities 3%. All of the subjects are recruited randomly by general practitioners (GP) and physicians in hospitals. The subjects are individuals who would like to join the Estonian Genome Project after hearing about it in special promotion events, media, friends, etc. or visiting GP offices or hospitals for other reasons. A Computer Assisted Personal interview (CAPI) is filled within 1-2 hours at a doctor’s office, which includes personal data (place of birth, place(s) of living, nationality etc.), genealogical data (family history spanning four generations), educational and occupational history, lifestyle data (physical activity, dietary habits - FFQ, smoking, alcohol consumption, women’s health, quality of life). In addition, we have 40 000 people with MCTQ (chronotype) incl. 15 000 with GWAS data and 3 000 people with NEO-PI-R questionnaire plus GWAS data on 2 700. The whole exome of over 100 individuals and the whole genome of 1 000 randomly selected participants have been sequenced.

Medical history and current health status is recorded according to ICD10 codes, medication according to ATC. Extra data are collected from psychiatric patients (MINI and SSP interview). Anthropometric measurements, blood pressure (sitting position at the end of the interview), and resting heart rate are measured during the visit; 30-50 ml of venous blood are taken into EDTA Vacutainers, which are transported to the central laboratory of EGCUT at +4…+6°C in the following 6 to 36 hours where DNA, plasma and WBC are immediately isolated and kept in aliquots in MAPI straws in liquid N2 for further use. All procedures are run according to ISO 9000-2008 and LIMS. We have 35 people, including biobank, a biostatistics and bioinformatics unit, technology core, a human genetics lab and an IT development unit.

GWAS has been performed on 15 000 subjects with different Illumina arrays. Part of them, 2 100 subjects, also have RNA from venous blood for gene expression study and 40 clinical chemistry/biochemistry analyses from serum and plasma performed at UT hospital laboratory. Metabolite analysis (NMR and MS) from the same individuals (n=12 000 in total) was carried out in the final stage with the ENGAGE consortium. More than 2 000 donors were followed up. In addition, the database is linked with the national registries and hospital databases in order to get up-to-the date phenotypic information.

More information in English is available at www.biobank.ee.

 

General Information

General Design

Study design: 
Cohort study
Other:

Prospective, longitudinal, population-based cohort study.

Recruitment target: 
Individuals
Target number of participants: 
51 535
Target number of participants with biological samples: 
51 535
Supplementary information about target number of participants: 

The Estonian Genome Project collected the following biospecimens at baseline: 

  • DNA: 42 000 participants
  • Serum: 1 000 participants
  • Plasma: 42 000 participants
  • Blood cell isolates (buffy coat, etc.): 42 000 participants

Access

Access to external researchers or third parties provided or foreseen for
Data (questionnaire-derived, measured...): 
Yes
Biological samples: 
Yes

Marker Paper

Marker paper: 
Leitsalu L et al. Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu. Int J Epidemiol. 2014 Feb 11.
Pubmed ID: 

Supplementary Information

Endpoints
Number of prevalent cases provided (reported at baseline). Number of incident cases will be available in 2015.

Cancer
Head and Neck (C00-C14; C31, C32) = 91
Esophagus (C15) = 2
Stomach (C16) = 59
Colorectal (C18-21) = 175
Liver (C22) = 9
Gallbladder (C23-24) = 9
Pancreas (C25) = 16
Lung (C33-34) = 59
Breast (C50) = 280
Cervix (C53) = 150
Corpus uteri (C54) = 123
Ovary (C56-57) = 122
Prostate (C61) = 199
Total cancers (C00-C97) excluding non-melanoma skin cancer = NA

Cardiovascular endpoints
Acute coronary events = 5350
Stroke = 517

Other endpoints 
Type II diabetes (E11) = 2191

Documents

Populations

Estonian Population Biobank

The cohort size is currently 51,535 people (gene donors) from 18 years of age and up, which closely reflects the age, sex and geographical distribution of the Estonian population. Estonians represent 83%, Russians 14% and other nationalities 3%.

Selection criteria: 
Age:
Minimum 18
Country:
Estonia
Sources of recruitment: 
General population:
Volunteer enrolment
Supplementary information:

All of the subjects are recruited randomly by general practitioners (GP) and physicians in hospitals. The subjects are individuals who would like to join the Estonian biobank after hearing about it in special promotion events, media, friends, etc. or visiting GP offices or hospitals for other reasons.

Number of participants: 
No limit
Number of participants with biological samples: 
No limit
Supplementary information about number of participants: 

51,535 as per March 2014.

Datasets

NameDescription
EGP_Baseline

Exposure data collected at baseline in the...