Legacy cohorts and chips

FinnGen study utilizes biobank samples consisting of two entities:

  • Prospective samples

Prospective samples are mainly collected by hospital biobanks. A request to donate a prospective sample for biobank research can come in a variety of ways. During a hospital visit, a patient can be asked whether he or she would be interested in giving a biobank consent and donating their sample.

  • Legacy samples

Legacy samples are older sample cohorts that have been collected for research prior to when the Finnish Biobank Act came into effect (September 2013) and the start of FinnGen (August 2017). These cohorts have then later been transferred to various Finnish biobanks. Below you can find the legacy sample cohorts accessed in FinnGen, as well as the legacy chips used for genotyping samples from the legacy cohorts.

Legacy cohort

Biobank

Description /sample size in whole cohort

Auria legacy

Auria

Biobank samples collected in Auria in 2016 (before FinnGen started)

Auria

DIREVA is the diabetes register of the Vaasa hospital district, which is carried out through the co-operation with Lund University in Malmö, Botnia Study and University of Helsinki. 7000 participants. Blood/DNA samples available from all participants.

THL

Ongoing study since 1990 investigating diabetes risk factors To date, >15 000 participants from 1400 families. DNA available from all participants, also serum, plasma, cell and RNA samples, from subset, genotype data available from 12720, WES from 395 participants. Botnia data includes; Botnia DGI affy, Botnia T2DGo and Botnia-regeneon.

THL

Collected at the Helsinki University hospital during 2006-2008 from patients with coronary artery disease (CAD) and other related heart diseases to understand risk factors of heart diseases. DNA and genotype data available from 4890 participants.

Eastern Finland legacy

THL

KBCP (breast cancer patients, ~400), Nomod (Nordic modic project, back surgery patients, ~60), NPH (normal pressure hydrocephalus cohort, patients, relatives and contorls ~950), L-MCI (neuro/alzheimer patients, ~705)

THL

A multidisciplinary study, which focuses on identification of novel Alzheimer’s disease (AD)-associated genes and pathways using existing clinical cohorts from Eastern and Northern Finland ~1700 patients fulfilling the NINCDS-ADRDA criteria for probable AD and ~1700 cognitively healthy controls from Eastern and Northern Finland.

Eastern Finland legacy (Aneurysm)

THL

-

Eastern Finland legacy (NOMOD, IIH S100B)

THL

NOMOD (Nordic modic project, back surgery patients ~370), IIH patients (~70), S100B biomarker study (acute head injury study, n~50)

THL

A population survey study by the Finnish Institute for Health and Welfare (THL), producing up-to-date information on health, health behavior, functional capacity and well-being of adults residing in Finland. 6650 participants with DNA, serum and plasma, genotype data available from 6250 participants. NMR metabolomics from 5290.

THL

Fin-HIT is a prospective school-based cohort study including approximately 11,000 Finnish adolescents aged 9–12 years at enrolment across densely populated areas of Finland. The cohort will be followed at least for 25 years. The objectives of the study are to explore non-conventional determinants for weight and weight gain; to investigate etiology of weight-related health outcomes; and to understand underlying molecular mechanisms involved in the origin and development of obesity and related health outcomes.

THL

A nationwide registry study of idiopathic pulmonary fibrosis (IPF) patients. The aim is to monitor the prevalence, treatment, pathophysiology and prognosis IPF patients. From 2017, FinnishIPF study has collected biobank samples from 206 participants, which form the FinnIPF subcohort

THL

Cross-sectional population surveys carried out every 5 years by THL, to assess health status, risk factors of chronic diseases (e.g. CVD, diabetes, obesity, cancer) and health behavior among the working age population, in Finland. Total of 41 000 participants; Currently available: DNA 36 300, plasma/ serum 27 200 and genotype data from 31 300 participants. WES 12160, WGS 4460, NMR metabolomics 27 160. PBMC available from 2700 participants. RNA from subsets. Transcriptomics and other omics 500+500.Telomers 4070.

THL

A prospective study investigating genetic risk factors of cardiovascular diseases and utilizing genetic information in preventing diseases. Conducted in years 2015-2018 in several different areas of Finland. Participant follow-up is still ongoing. DNA, serum and plasma available from 7300 participants, genotype data available from 7270 participants.

THL

A comprehensive combination of health interview and health examination survey carried out by THL in 2000-2001 with a follow-up in 2011. Investigating public health problems and population’s functional capacity in working-aged and the aged population in Finland. 8 611 individual participants, DNA, serum and plasma available from all participants (baseline and follow-up), genotype data available from 7700, WES 4960 , WGS 205 NMR metabolomics 10290, Telomers 7404

Helsinki BB

Five-year trial, collected between 1981-90, testing the efficacy of simultaneously elevating serum levels of HDL cholesterol and lowering levels of non-HDL cholesterol with gemfibrozil in reducing the risk of coronary heart disease in asymptomatic men. Blood/DNA and serum available from 4000 participants, genotype data currently available from 2000 participants.

Helsinki BB

Studying incidence, risk factors and outcome of acute kidney injury (AKI) in Finnish Intensive Care Units. 2546 participants. DNA/genotype data available from all participants.

THL

THL

The Migraine Family Study by FIMM/UH is focused on identifying variation in genes that are associated with migraine, headache-related symptoms and chronic disease risk factors. Collected since 1992 and ongoing. DNA available from 9450 participants, genotype data available from 8470 participants, WES 490, WGS 625.

Northern Finland Birth Cohort 1935, 1945, 1966, 1986

Arctic Biobank

The University of Oulu has collected several extensive population survey data sets, such as the Northern Finland Birth Cohorts NFBC1966 and NFBC1986. Blood/DNA samples available from 14 400 participants, genotype data from 10 000 participants.

THL

The Alpha-Tocopherol, Beta-Carotene (ATBC) Lung Cancer Prevention Study (1984-1993) of male smokers was a randomized, double-blinded, placebo-controlled trial testing whether alpha-tocopherol and/or beta-carotene supplements can reduce the incidence of lung and other cancers. Serum 29 000, DNA samples available from 20 000 participants, genotype data from 4000.

THL

The Study is a part of the International Stanley Global Neuropsychiatric Genomics Initiative, seeking to expand knowledge of genetic diversity and biological background in schizophrenia, bipolar disorder, and autism. DNA, serum and plasma available from 9350 and genotype data from 9025 participants.

THL

THL has collected samples and data from diabetics and their family members in several sub-studies between 1986 and 2013. The focus has been on the genetic background and environmental triggers of diabetes in Finland. Size: DNA from 13 600 participants, plasma, serum and cell samples from subsets; genotype data available from 9080 participants.

THL

The THL Psychiatric Family Collections include families ascertained for schizophrenia, schizoaffective disorder and bipolar spectrum disorder. The objective of the study is to identify the genetic risk factors for serious psychiatric disorders in Finnish families.

THL

Population-based study of UH collected from Finnish twins and their family members. Based on three longitudinal questionnaire data-sets from >14 000 participants. The collection has been expanded with follow-up sub-studies involving samples and data. DNA available from 14200 participants, genotype data available from 14100 participants.

FinnGen Legacy cohorts and chips

DatasetChip type

DS1_BOTNIA_Dgi

Affymetrix_250KNsp_250KSty

DS2_BOTNIA_T2dgo

lllumina_HumanOmni2.5-4v1_B_SNV_array

DS3_COROGENE_Sanger

Illumina Human610-Quadv1_B

DS4_FINRISK_Corogene

Human610-Quadv1_B

DS5_FINRISK_Engage

HumanCoreExome-12v1-0_A

DS6_FINRISK_FR02_Broad

GSAMD-24v1-0_20011747_A1

DS7_FINRISK_FR12

Illumina_HumanCoreExome-24-v1.1

DS8_FINRISK_Finpcga

Illumina_HumanCoreExome-12v1.1a

DS9_FINRISK_Mrpred

Illumina_HumanCoreExome-24_v1.0

DS10_FINRISK_Palotie

HumanCoreExome-12v1-1_A

DS11_FINRISK_PredictCVD_COROGENE_Tarto

HumanOmniExpress-12v1_A

DS12_FINRISK_Summit

HumanOmniExpress-12v1_H

DS13_FINRISK_Bf

Illumina_HumanCoreExome-24_v1.0

DS14_GENERISK

lllumina_HumanCoreExome-24v1-0_A

DS15_H2000_Broad

Broad_GWAS_supplemental_15061359_A1

DS16_H2000_Fimm

Illumina_HumanCoreExome-24v1-1_A

DS17_H2000_Genmets

Human610-Quadv1_B

DS18_MIGRAINE_1

PsychChip_15048346_B-_24

DS19_MIGRAINE_2

HumanCoreExome-12v1-0_A

DS20_SUPER_1

GSAMD-24v1-0_20011747_A1

DS21_SUPER_2

GSAMD-24v1-0_20011747_A1

DS22_TWINS_1

Illumina Human670/Human610

DS23_TWINS_2

IlluminaCoreExome

DS24_SUPER_3

GSAMD-24v1-0_20011747_A1

DS25_BOTNIA_Regeneron

GSA-24v1-0_A1

DS26_DIREVA

InfiniumCoreExome-24v1-1

DS27_NFBC66

Illumina HumanCNV370DUO Analysis BeadChip

DS28_NFBC86

HumanOmniExpressExome v 1.2

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