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.