Biobank projects
Explore the biobank projects approved in THL Biobank during recent years.
2024
Research project FinnGen: Using plasma proteomics to better understand the role of genes in disease pathogenesis and progression in Finland
Project PI: Aarno Palotie, FIMM
The FinnGen study aims to improve our understanding of disease mechanisms and enable the development of better treatments for different diseases. To this end, the FinnGen study aims to identify which gene variants are linked to diseases by combining health records and genetic data from 500,000 Finns. Of particular medical interest are variants that appear to modify the gene product in question, which are relatively rare but more common in the Finnish population than elsewhere. To better understand the impact of such genetic factors on health and disease, FinnGen will combine data on other biological markers such as proteins and metabolites with existing data. Proteins play a crucial role as biomarkers of disease and drug responses, reflecting both genetic factors and environmental exposures and enabling holistic health monitoring. (THLBB2024_15)
Research project FinnGen: Exome sequencing of bipolar and anorexia samples
Project PI: Aarno Palotie, FIMM
A better understanding of the genetic background of these diseases is one of the key objectives of the third phase of FinnGen. Exome sequencing will provide new biological insights into disease mechanisms. (THLBB2024_6)
FinnGen research project: Exome sequencing of Polycystic Kidney Disease (ADPKD)
Project PI: Aarno Palotie, FIMM
A better understanding of the genetic background of these diseases is one of the key objectives of the third phase of FinnGen. Exome sequencing will provide new biological insights into disease mechanisms. (THLBB2024_5)
2023
Machine Learning and 3D Genome based Cancer Early Prediction
Project PI: Klaus Förger, Atostek
Cancer early prediction and intervention are critical for both individuals and the society, in terms of wellbeing and economic concerns. In this collaboration study between Finland and China, the goal is to study the application of machine learning methods and 3D genome in cancer early prediction. The study utilises genome data from THL Biobank, health data from Kanta archive, and prediction algorithms and equivalent public datasets. (THLBB2023_53)
The interrelated effects of sociodemographic and polygenic factors on health and social outcomes
Project PI: Pekka Martikainen, University of Helsinki
Thanks to recent methodological advancement, polygenic information can be utilized in the study of complex traits including most disease and social outcomes. We aim to use such information available in the various Finnish cohort data linked with administrative register data to further our understanding of social careers and social determinants of disease. Although genetic vulnerability to many non-communicable diseases is well established, much less is known whether these effects are mediated or modified by equally well-established social determinants. This study is set out to analyze the joint effects of polygenic susceptibility to disease outcomes, behavioral risk factors and indicators of social position on later life morbidity and mortality, and achieved sociodemographic outcomes. (THLBB2023_51)
Understanding Gene ENvironment Interaction in ALcohol-related hepatocellular carcinoma (GENIAL)
Project PIs: Eric Trépo, University of Brussels and Stephan Buch, Technical University Dresden
Alcohol-related hepatocellular carcinoma (ALD-HCC) is the leading cause of liver cancer in Europe. ALD-HCC results from the interplay between environmental determinants, genetic variations and their interactions. However, a comprehensive characterization of genetic and environmental risk factors triggering ALD-HCC development at cellular level remains mostly unknown just as their impact on risk stratification for ALD-HCC prevention at population level. Our aim is to portray genetic and environmental determinants promoting ALD-HCC and to evaluate how they interact at cellular level in human samples and preclinical models to get novel insights into liver carcinogenesis. (THLBB2023_48)
FinnGen 3
Project PI: Aarno Palotie, FIMM
The aim of the FinnGen study is to improve our understanding of disease mechanisms and to enable the development of better treatment strategies for various diseases. To achieve this, FinnGen is designed to identify which genetic variants are associated with disease by combining the health register data and genetic data of 500.000 Finns.
Variants that seem to alter the gene product in question and that are relatively rare, but more common in the Finnish population than elsewhere, are of special medical interest. To better understand the impact of such genetic factors on health and disease, FinnGen will combine data on additional biological markers (e.g., proteins and metabolites) with the existing data. FinnGen is a research project involving biobanks and their background organizations (universities, wellbeing services counties, THL and other research institutes) in cooperation with the pharmaceutical industry. The research is funded by the partner companies. (THLBB2023_42)
Genetics of caries and periodontitis in the Health 2000/2011 Surveys
Project PI: Liisa Suominen, University of Eastern Finland
The GWAS analyses using end points available in the Health 20020 and 2011 Surveys will be executed and explore genome-wide significant loci that associate with dental caries and periodontal diseases (gingivitis and periodontitis). Replicating the results and eventually performing meta-analyses are planned with 'The Gene-Lifestyle Interactions in Dental Endpoints (GLIDE) consortium'. (THLBB2023_19)
Research Project FinnGen: Combining genetic and electronic health record data to improve drug discovery (Twin omics data)
Project PI: Aarno Palotie, FIMM and for the Twin omics study Rodos Rodosthenous, FIMM
The aim of the FinnGen study is to improve our understanding of disease mechanisms and to enable the development of better treatment strategies for various diseases. To achieve this, FinnGen is designed to identify which genetic variants are associated with disease by combining the health register data and genetic data of 500.000 Finns. FinnGen is a research project involving biobanks and their background organizations (universities, wellbeing services counties, THL, and other research institutes) in cooperation with the pharmaceutical industry. The research is funded by Business Finland and the partner companies.
Genetic variants that seem to alter the gene product in question and that are relatively rare, but more common in the Finnish population than elsewhere, are of special medical interest. To better understand the impact of such genetic factors on health and disease, FinnGen will combine data on additional biological markers (e.g., proteins and metabolites) with the existing data. (THLBB2023_17)
Is the third molar the most frequently extracted tooth?
Project PI: Johanna Snäll, University of Helsinki
Several articles on third molars state at first that this tooth is the most frequently extracted tooth, or its extraction is the most frequent surgical procedure in dentistry. References are typically not given for this statement. It is known that extraction of third molars is a common procedure in young adults and at oral surgical units. Is this information sufficient to draw conclusions concerning the population? (THLBB2023_13)
2022
Early Alzheimer's disease in FinnGen and the Twins cohort - The TWINGEN study
Project PI: Valtteri Julkunen, University of Helsinki
This study aims to improve and ease the evaluation of risk and diagnostics of Alzheimer´s disease. The study assesses the usage of remote cognition assessment by telephone interview and computer-based application. Blood based biomarkers for Alzheimer´s disease are also assessed in conjunction with other measured variables including earlier health data. Physical activity and sleep are measured with UKK institute actigram as well as with the Oura ring. (THLBB2022_83)
Genetic mechanisms underlying severe psychiatric and neurocognitive disorders
Project PI: Aarno Palotie, FIMM and Olli Pietiläinen, University of Helsinki
The biological mechanisms underlying severe psychiatric disorders are not known. The diagnoses are often based on descriptive symptoms and signs. In addition to environment, genetic factors influence the disease susceptibility by e.g. influencing the function of neurons and their connections in the brain. To understand how psychiatric disorders develop, it is necessary to understand how the genetic factors affect cell functions. In this study we study the association of genetic variants with psychiatric and cognitive traits in Health 2000 and FINNRISK cohorts. In addition, we study how genetic risk variants affect human cell functions. (THLBB2022_82)
Multi-ancestry study of gene-lifestyle interactions for heart diseases and cardiometabolic traits
Project PI: Patricia B. Munroe, Queen Mary University of London
Heart disease, cardiometabolic and cardiovascular risk factors contribute to major public health problems and disproportionately affect non-European ancestry populations. Both heart disease and cardiometabolic traits are influenced by genes, lifestyle factors and neurological disorders. Genome-wide association studies have been hugely successful in discovery of genes for cardiovascular traits however, gene x lifestyle (GxL) interaction studies are more limited. The primary goal of the research study is to identify novel loci and GxL interaction effects for these risk factors. The results from our studies will inform our understanding of the interactions and could provide insights into new medicines to reduce disease burden. (THLBB2022_64)
Targeted prevention of subarachnoid hemorrhage in smoking women - extended screening
Project PI: Justiina Huhtakangas, Helsinki University Hospital, University of Helsinki
The aim of this research project is to screen unruptured intracranial aneurysms in unsymptomatic individuals. Rupture of an intracranial aneurysms causes subarachnoid hemorrhage (SAH), which is associated with devastating illness, suffer and loss of productive life-years especially among the working age population. Our goal is to screen 50 to 60-year-old female smokers with a brain imaging study (CTA angiography) to identify those individuals with un unruptured intracranial aneurysm. This study is a sequel to a pilot study (2021), which revealed that a higher percent of female smokers (over 10%) may carry an unruptured intracranial aneurysms when compared to the normal population (2-3%). Preventive treatment of unruptured intracranial aneurysm and/or treatment of cardiovascular risk factors like cessation of smoking may also prevent subarachnoid hemorrhage. (THLBB2022_62)
Genomic strategies to identify high-impact psychiatric risk variants
Project PI: Nelson B. Freimer, University of California, Los Angeles (UCLA)
The project is a large genetics study into genetics of psychoses. Finnish psychiatric collections and population-based control data sets are already part of the project. In this application, we apply for 3 more years to continue the use of the data sets. Data analysis will be performed as a collaboration between FIMM, THL and UCLA. The aim of this study is to better understand how changes in DNA are associated with the liability for psychosis. (THLBB2022_61)
Basilar artery thrombosis survivors, extension study
Project PI: Tiina Sairanen, HUS Neurocenter
Basilar artery occlusion by thrombosis is a neurological emergency which most often leads to death or permanent disability if the blocked vessel can not be revascularized. It occurs at the back part of cerebral blood circulation wit a high risk of recurrent blocking, even in 25% of patients. Long-term follow up of survived patients is an uncovered area. We aim to describe: 1) long-term prognosis, 2) secondary preventive medication and 3) the quality of life among survivors, compared with socio-economic and health-related factors among Finnish population from Terveys 2011 cohort. (THLBB2022_58)
Family Portrait: Genetic and environmental determinants of the gut microbiome in a founder effect population
Project PI: Simon Girard, Université du Québec à Chicoutimi
Our “Family Portrait” aims to investigate the complex links between host genetics and the gut microbiome in a population with a well-documented founder effect. Our targeted cohort will be recruited in the Saguenay-Lac-Saint-Jean (SLSJ) region of Canada, a population with a very homogeneous genetic structure. Resembling the FINRISK cohort, this population has been extensively documented in a large genealogy database (BALSAC), and presents a unique genetic structure due to a triple founder effect. Access to the FINRISK data will allow us to compare two populations and to weigh the effect of each factor in a novel way. (THLBB2022_54)
METformin and FINGER Intervention to Prevent Cognitive Impairment and Disability
Project PI: Tiia Ngandu, Finnish Institute for Health and Welfare
MET-FINGER aims to understand whether combining healthy lifestyle changes with a drug for diabetes (metformin), helps reduce the risk of cognitive decline. 600 older people (60-79 years) with risk factors for dementia, but without dementia/substantial cognitive impairment, will be recruited in three countries (at least 50% with higher genetic risk), and 200 participants in Finland are identified from THL Biobank. They will be randomly assigned 1:1 to a structured or a self-guided lifestyle intervention. Within the structured intervention, participants with risk factors for diabetes, will be randomly assigned to receive metformin or placebo. The intervention duration is 24 months. The primary objective is to test the effect of structured intervention, compared to self-guided, on the change in cognition. The secondary objectives are the intervention effects e.g. on change in individual cognitive domains, functioning level, and risk factors for dementia. (THLBB2022_40, THLBB2023_50)
Genetic determinants of height
Project PI: Avinaash Maharaj and Helen Storr, Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University London
This project aims to examine the contribution of genetic determinants of height in subjects carrying the QSOX2 variant (rs61744120, c.1055C>T, p.T352M) in the UK and Finland. This involves any THL Biobank collection in which the specific SNP and height data are available. The study design involves generation of a flexible bioinformatic pipeline for rare variant association analysis (rs61744120) with regards to height. This would provide a useful comparison of a height associated genetic locus in two different populations (British vs. Finnish). (THLBB2022_23)
Assessment of dietary exposure of Finnish adults to certain contaminants and nutritional factors
Project PI: Johanna Suomi, Finnish Food Authority
The exposure of Finnish adults via food will be assessed for a group of heavy metals, environmental toxicants, vitamin D, and beneficial fatty acids. The assessment forms a part of research projects LEX4BIO and EU-Fish IV (funded by Finnish Government’s Analysis, Assessment and Research Activities). The aims are to estimate the current health risk from dietary exposure, how the exposure would change if bio-based fertilizers were used, as well as whether the benefits of fish use outweigh the risks. Population groups most at risk will be identified. (THLBB2022_20)
Read more about LEX4BIO project
Genetics of cardiac sarcoidosis
Project PI: Jukka Lehtonen, HUS
Sarcoidosis is a disease characterised by granulomatous inflammation of the affected organs. It primarily affects lungs and the lymphatic system but can also appear in other organs such as the heart. The pathophysiology of sarcoidosis is not entirely clear, and both environmental and genetic factors have been linked to its development. Cardiac sarcoidosis can manifest as part of systemic sarcoidosis or as an individual disease in which other organs are not affected. In this study, we will compare the genes of cardiac sarcoidosis patients with healthy control subjects to look for differences between them. (THLBB2022_19)
Burden of obesity in Finland: assessing direct, indirect, and total costs associated with obesity (FinWeight study)
Project PI: Tero Ylisaukko-oja, MedEngine Oy
FinWeight study aims to characterize the total burden of obesity in Finland. The study assesses the association between obesity and comorbidity, quality of life (QoL), and functional capacity. In addition, the association between body mass index (BMI) and healthcare resource and medication use and work disability will be characterized, as well as both direct and indirect costs related to obesity. (THLBB2022_14)
Epidemiology of food process contaminants
Project PI: Tero Hirvonen, Finnish Food Safety Authority
The foreign substances forming in food processing, called process contaminants, develop when foods are heated, smoked or fermented. Carcinogenic process contaminants are significant because they may cause mutations (damage) to the genome. These mutations may lead to the development of cancer. The aim of the study is to investigate whether the use of heat-treated foods is connected to the risk of cancer and whether they cause a significant disease burden. (THLBB2022_12)
Development and Validation of Neural Polygenic Risk Scores
Project PI: Roland Eils, Berlin Institute of Health (BIH) and Charité University Medicine
Understanding the genetic basis of human disease has been a decade-long quest in the biomedical research community. Genetics influence most human diseases and there are methods to determine a person's risk for a given disease. Current methods to achieve this treat different variants in the human genome as independent of each other, which is likely not always the case. Here, we propose a method that can model interactions between variants and does so in an interpretable way. Thus, a person will not only be assigned a number that describes lower or higher genetic risk for the disease, but also a list of molecular systems like DNA repair or the Breakdown of sugars to explain the prediction. (THLBB2022_7)
A new intervention for implementation of pharmacogenetics in psychiatry - a biobank study (PSY-PGx)
Project PI: Roos van Westrhenen, Maastricht University and Jaakko Kaprio, University of Helsinki for the Finnish Biobank study
Mental disorders are noncommunicable diseases that are a major health challenge in Europe in the 21st century. In the PSY-PGx project overall, today, medication selection in psychiatry relies on a trial-and-error approach that combines physicians' experience with clinical indicators. Pharmacogenetic (PGx) testing can help reduce uncertainty in this process by determining the person-specific genetic factors that predict clinical response and side effects associated with genetic variants that impact drug-metabolizing enzymes, drug transporters or drug targets, where differences in metabolism are by far most important. As part of the project, we aim to use data on genetic variants in two genes involved in the metabolism of medications commonly used in psychiatry to study their impact on medication choices and outcomes in a real life setting using biobank and register data. (THLBB2022_5)
PSY-PGx website
Genetic background of orofacial clefts
Project PI: Pekka Nieminen, HUS and University of Helsinki
The aim of the project is to extend the understanding how genes regulate normal craniofacial development. Previous research has uncovered mutations and associations in various genes that underlie the most common craniofacial developmental anomaly, oral clefting. Now, FinnGen, a large population study, has identified an association of cleft palate with a highly Finnish enriched variant in the IRF6 gene. This variant may provide explanations why cleft palate is more common in Finland than elsewhere. Our aim is to confirm this result and perform a phenotypic analysis of the effect allele carriers. We will also perform similar analyses with prospective novel Finngen findings and use biobank samples to study oral clefting candidate genes from other studies. (THLBB2022_3)
2021
ECG phenotypes of a disease-associated missense variant in the SCN5A gene which protects from arrhythmia diseases in heterozygous state
Project PI: Henrike Heyne, Hasso Plattner Institute Digital Health Center
In this project, we are interested in studying ECG phenotypes of a missense variant in the SCN5A gene. Inheriting two of those variants from both parents may result in more severe but well-treatable heart arrhythmia disease but we found that carrying only one variant protects from heart arrhythmia disease. Now, we want to investigate how this variant changes electrical conduction in the heart by comparing ECG data between carriers and non-carriers. (THLBB2021_55)
Irritant-induced occupational asthma
Project PI: Jussi Lantto, Finnish Institute of Occupational Health
Occupation is a substantial contributing factor in adult-onset asthma. A subset of occupational asthma is caused by irritant agents, but irritant-induced asthma is poorly known. Finnish Institute of Occupational Health (FIOH) identified 69 patients diagnosed with irritant-induced occupational asthma during 2004-2018. FIOH carried out a retrospective study to analyze the exposure events and clinical picture of irritant-induced asthma. A follow-up study evaluated the patients’ prognosis and long-term outcome. Irritant-induced asthma was compared to other occupational asthma and non-occupational, adult-onset asthma. The research project aims to raise awareness of irritant agents in working life and secure a safe occupational environment. (THLBB2021_47)
Chromosomally integrated HHV-6 in preeclampsia and in the Finnish population
Project PI: Satu Wedenoja, University of Helsinki
Recently, a study reported that inherited form of chromosomally integrated human herpes virus 6 (ciHHV-6) in a foetus is associated with preeclampsia in large clinical and population cohorts. Our study aims to assess the prevalence of ciHHV-6 in the Finnish preeclampsia cohort (FINNPEC). Moreover, we will study whether the prevalence of ciHHV-6 in the Finnish population is at the expected level of 1-2 %. The study utilizes unmapped non-human reads from the FINRISK study series of the THL Biobank. (THLBB2021_44)
Utilizing pluripotent stem cell lines in the study of neurological diseases
Project PI: Sanna Hagman, Tampere University
The goal of the research project is to understand the pathogenetic mechanisms of neurological diseases such as MS, epilepsy, ischemic brain injury and Parkinson's disease and to develop human-derived stem cell models for studying neurological diseases. Nervous system cells such as neurons, astrocytes and microglial cells differentiated from pluripotent stem cell lines of patients and healthy controls are used in the study. The project aims to find out the cellular and molecular biological properties of the produced cells as well as their functionality at the single-cell and network level, and to produce controlled 2- and 3D human cell models from these cells for neurotoxicity and drug profiling studies. (THLBB2021_39)
Work environment, lifestyle and health among orchestra musicians versus core workforce
Project PI: Martti Vastamäki, Orton
The impact of work environment and lifestyle of Finnish orchestra musicians on perceived health, ability to work, and perceived health-related quality of life comparing those to the core work force in Finland. (THLBB2021_31)
Impact of classical risk factors on cardiovascular disease globally
Project PI: Christina Magnussen and Stefan Blankenberg, University Heart and Vascular Center Hamburg, Germany
It is known from studies like INTERHEART that a small number of modifiable risk factors might explain up to 90% of cardiovascular disease (CVD) burden. We therefore aim to evaluate the impact of 5 classical risk factors (BMI, systolic blood pressure, non-HDL-cholesterol, smoking and diabetes) on long-term CVD globally. Stratified according to different geographical regions, we will 1) elucidate the distribution of classical risk factors, 2) identify the magnitude of single risk factors on CVD incidence and (3) illustrate their impact on short, intermediate and long-term CVD incidence, (4) explain related lifetime risk and (5) suggest possible lifetime gain by risk factor modification with the overarching aim to reduce CVD burden worldwide. To answer these questions, we founded the Global Cardiovascular Risk Consortium (GCVRC), which is fundamentally based on European MORGAM/BiomarCaRE consortia and to date includes about 1,5 million individual level data. (THLBB2021_24)
Association of metastable epiallele nc886 with cardiometabolic phenotypes
Project PI: Emma Raitoharju, Tampere University
Methylation status of the nc886 epiallele is associated with periconceptional conditions, such as maternal age and socioeconomic status. The methylation status of the nc886 epiallele regulates the expression of nc886 RNAs and the expression levels are further modulated by genetic variation. Methylation status of the nc886 epiallele is associated with childhood adiposity, as well as with insulin and glucose levels in adolescence. In adulthood, levels of nc886 RNAs are associated with serum glucose levels and with impaired fasting glucose. Thus, nc886 is a potential molecular link between periconceptional conditions and later life health traits.
The aim of our project is to identify associations between nc886 epiallele methylation status and cardiometabolic phenotypes. Further, by utilizing genetic and epigenetic information as a proxy for RNA levels, we aim to identify associations between nc886 RNA levels and cardiometabolic phenotypes in adulthood in a Finnish population. (THLBB2021_22)
The Finnish Diabetic Nephropathy Study - FinnDiane
Project PI: Per-Henrik Groop, Helsinki University/ Folkhälsan Research Center
Diabetes is a major cause of morbidity and mortality, 1/3 developing diabetic kidney disease (DKD). Diabetes is also a major cause of blindness (diabetic retinopathy), amputations and cardiovascular disease. However, the pathogenesis of diabetic complications (DCs) remains poorly understood. Identification of the underlying genetic factors would not only improve our understanding of the biological processes leading to DCs but could also have a translational impact as they can suggest novel biomarkers or target molecules for medical intervention. FinnDiane is one of the World’s largest well-characterised studies on individuals with type 1 diabetes with the aim to identify genetic, environmental, and clinical factors affecting DCs. For the identification of genetic risk factors for DCs we use various techniques such as genome-wide association studies (GWAS), whole exome and whole genome sequencing (WES and WGS) and epigenome-wide association (EWAS) and methylation sequencing studies. (THLBB2021_10)
Metabolites and nutrition
Project PI: Tanja Zeller, University Heart and Vascular Center in Hamburg
Atrial fibrillation (AF) represents the most common sustained arrhythmia in the general population of the western world. The pathology is complex and still incompletely understood. In addition to fundamental pathomechanisms, recent evidence has established a connection between metabolic alterations and AF pathology. Thus, metabolic profiles became the focus of biomarker research for AF. In this regard, we identified long-chain acylcarnitines (AC) to be associated with an increased risk of developing AF. These findings might guide the development of new dietary strategies for treatment or prevention of AF. (THLBB2021_9)
Nordic studies on occupational and traffic noise in relation to disease (NordSOUND)
Project PI: Timo Lanki, Finnish Institute for Health and Welfare (THL)
Nordic studies on occupational and traffic noise in relation to disease (NordSOUND) is a Nordic joint research project funded by NordForsk. The objective of the project is to investigate the effect of environmental noise on health among adults and on child's fetal development. Increasing traffic combined with compacting urban structure has led to a rise in noise exposure. Noise is a known psychological and physiological stressor and a risk factor for many diseases together with air pollution. Thus far not so much is known about the combined effect of noise, air pollution and green areas. Existing Nordic cohort studies and national population-based registers are utilized in this project. The partners of NordSOUND are Danish Cancer Society Research Center (coordinator), University of Copenhagen, Finnish Institute of Health and Welfare, Norwegian Institute of Public Health, Karolinska Institutet, University of Gothenburg and University of Lund. (THLBB2021_8, THLBB2023_49)
The genetics of congenital heart defects
Project PI: Emmi Helle, University of Helsinki
Congenital heart defects are the most common congenital malformations affecting 0.8-1% of the population. Congenital heart defects are known to recur within families. However, due to their complex inheritance pattern, identifying causal gene variants has been difficult. In addition to genes, also environmental factors such as maternal diabetes are known risk factors for congenital heart disease in the offspring. The aim of this study is to identify new genes and molecular mechanisms behind congenital heart defects in a Finnish patient cohort. Exome sequencing will be used to identify pathogenic genetic variants. Patient-derived induced pluripotent stem cells (iPSC) will be used to study how patient cells differ from those of healthy controls. This study will provide information on the pathophysiological mechanisms behind complex disease, and establish novel methods for using patient-derived iPSCs in disease modeling. (THLBB2021_6)
2020
Research project FinnGen, phase II: Better understanding of disease mechanisms by combining genomic and health information
Project PI: Aarno Palotie, University of Helsinki
FinnGen is a scientific research project involving biobanks and their background organizations (universities, hospital districts, THL) in cooperation with the pharmaceutical companies. The main goal of the research project is to increase the understanding of the causes of diseases and to promote their diagnosis, prevention and development of treatments. The project started in 2017 and is expected to continue for ten years. During the study, genomic data from a total of 500,000 Finnish biobank donors will be produced and analyzed, to be combined with information from national health registers (eg hospital discharge register, causes of death, cancer register). The research is funded by Business Finland (formerly TEKES) and international pharmaceutical companies. DNA sample or genomic data as well as basic background information collected during the original study (age, sex, height, weight and possible smoking information) have been provided for the study from the biobank.
Lipid metabolism and risk of hemorrhagic stroke
Project PI: Martin Söderholm, Lund University
Intracerebral hemorrhage (ICH) accounts for 10–15 % of all stroke cases. ICH has very high death rates and poor functional outcome in survivors. Treatment options are limited, which makes prevention crucial for reducing disease burden. Subarachnoid hemorrhage (SAH) is the other type of hemorrhagic stroke, and accounts for 5 % of stroke cases. The most important risk factor for ICH and SAH is high blood pressure. Little is known about biomarkers associated with risk of ICH and SAH. Levels of different lipids in the blood is a promising new area of study. (THLBB2020_30)
Vector-borne diseases: historical seroprevalence studies
Project PI: Olli Vapalahti, University of Helsinki; Jukka Hytönen, University of Turku; Hannu Kiviranta, Finnish Institute for Health and Welfare (THL)
Vector-borne diseases (VBDs) are public health threats that can cause significant disease burden. Quantifying VBD risk is complicated as it depends on numerous parameters. The VECLIMIT consortium aims to estimate and predict these risks in relation to climate change in Finland by integrating existing long-term human disease incidence data with data on vectors, host communities and environment. We will use 3 biobank sample collections to conduct serological analyses for several VBDs (Lyme disease, Tularemia, TBE, Pogosta, Puumala and other pathogens, if possible) in order to study their spread and trends in Finland over the past 40 years. The seroprevalence study results will also be used is the analysis and modelling of climate change -dependent factors affecting the spatio-temporal dynamics of VBDs in Finland. This will inform us on how VBDs incidence evolved over time and what might have been the impact of climate and/or societal changes on their frequency. (THLBB2020_28)
Serum persistent organic pollutants (POP) and subsequent risk of amyotrophic lateral sclerosis (ALS)
Project PI: Paul Knekt, Finnish Institute for Health and Welfare (THL); Marc Weisskopf, Harvard School Chen of Public Health
The aim of this study is to investigate whether serum persistent organic pollutants (POP) predict subsequent occurrence of amyotrophic lateral sclerosis (ALS). We will also assess immune system markers in the blood samples to assess whether the exposures are associated with changes in immune cell distributions, and whether immune cell distribution profiles are associated with risk of ALS. The study is based on serum samples collected by the Finnish Mobile Clinic in 1968-1980 and stored frozen in THL Biobank. The study is carried out as a nested case-control design including ALS patients diagnosed after serum collection and matched controls. Based on the serum samples, the concentrations of POP will be determined. The study is a co-operation between THL and Harvard School Chen of Public Health. (THLBB2020_24)
Adhesion signaling in idiopathic pulmonary fibrosis
Project PI: Paula Turkki, Tampere University
Idiopathic pulmonary fibrosis is a disease that leads to scarring of the lung tissue and excess production of connective tissue eventually affecting the functionality of the lungs. The cause for the disease is unknown but it is accepted that communication between the cells and their surroundings play a role in the disease progression. Cells communicate with extracellular environment via multiprotein complexes called adhesions. In this research, with the aid of patient derived idiopathic pulmonary fibrosis DNA sequencing data, we will determine genetic changes associated with the disease with special interest towards cell and matrix communication. These results can help in understanding the disease process in molecular level and help in designing drugs and treatments for idiopathic pulmonary fibrosis. (THLBB2020_23)
Gut microbiome, blood metabolome and risk of common diseases
Project PI: Aki Havulinna, Finnish Institute for Health and Welfare (THL)
In this project we study the interconnections of gut microbiome, plasma metabolome and health in FINRISK 2002 and 2007 and Health 2000/2011 study participants. (THLBB2020_22)
Metabolomics of hormonal contraception
Project PI: Jari Haukka, University of Helsinki
More than 40% of Finnish women use hormonal contraception (HC). HC has a range of health benefits, but it is not exempt from adverse effects. Metabolic changes induced by HC vary depending on the type of formulation and route of administration, and seem reversible after interruption of use, although this observation has to be confirmed. Whether these metabolic changes are specific to the type of contraceptive, and if newer generations induce different profiles than older ones, need to be elucidated. To date, the only metabolomics-based study of HC has used data of three Finnish cohorts collected in 1997-2001. Examining the metabolic profiles of HC use in samples inclusive of the newest contraceptive options is crucial for understanding the safety profile of HC and its modification with time and types of contraceptive. This study will compare the metabolomics-based profiles of HC users and non-users in 1997-2017, and the time-effect, duration and reversibility of such metabolic changes. (THLBB2020_21)
Iron levels and health in Finnish blood donors and general population
Project Pi: Mikko Arvas and Jukka Partanen, Finnish Red Cross Blood Service
Roughly 120 000 Finns donate blood every year. Donation albeit proved to be generally safe for the donor, affects donors’ physiological balance. Previous research in blood donors suggest both positive and negative metabolic outcomes of blood donation. In the general population, lower iron values have been suggested to be related to lower risk for common diseases, such as coronary heart disease. We will study iron status and health in blood donors and general population from existing cohort data. (THLBB2020_19)
Pertussis in Finland, 1966-1972
Project PI: Qiushui He, University of Turku; Timothee Dub and Jussi Sane Finnish Institute for Health and Welfare (THL)
The aim of this study will be to describe seroprevalence of pertussis in Finland in 1966-1972, investigate differences depending on sex, age-groups and places of residence. Additionally, among positive samples, we will analyse activities of specific pertussis antibodies. This project will allow us to compare pertussis epidemiology 50 years ago to the current situation in Finland as well as describe how the switch from whole cell (used in Finland from 1952 to 2003) to acellular pertussis immunisation, introduced in 2003 might have had an impact of specific pertussis antibodies activity. (THLBB2020_16)
Role of genotypes in fatty liver
Project PI: Hannele Yki-Järvinen
Main aim is to examine in volunteers the role of different genotypes in fatty liver disease. (THLBB2020_3, THLBB2022_10)
