Finnish population cohort genotyping B

The FINRISK cohorts comprise the respondents of representative, cross-sectional population
surveys that are carried out every 5 years since 1972, to assess the risk factors of chronic
diseases (e.g. CVD, diabetes, obesity, cancer) and health behavior in the working age
population, in 3-5 large study areas of Finland. DNA samples were collected in the following
survey years: 1987, 1992, 1997, 2002, 2007, and 2012. The MONICA and EHES (EU)
procedures were applied in phenotype collection (cf. MORGAM) and a wide spectrum of
laboratory tests was carried out from serum and plasma samples. Background information on
socioeconomic status, medical history, diet, exercise, measured anthropometric measures,
etc. was collected by questionnaires and during a clinical visit. Plasma/serum samples are
still available for the 2002-2012 cohorts. The cohort sizes are 6000-8800 per survey. The
cohorts have been followed up by linking them to the national hospital discharge register,
causes-of-death register and cancer register.
This project is an extension to previous efforts to build a catalogue of Finnish genome wide
data on population-based Finsrisk samples with rich phenotypic characterisations and health
registry link-up. These samples will extend the current Sequencing Initiative Suomi (SISu)
samples with a combination of genotyping using Illumina HumanCoreExome array and SISu-
based imputation. This will lead to high confidence common and low frequency variant
catalogue. The project will be funded by Aarno Palotie’s remaining faculty funds
complemented by Finnish funding from FIMM.EGA study EGAS00001001047