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46
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Introduction
Current institution
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May 2015 - present
Publications
Publications (46)
Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalized medicine. The Estonian Biobank was founded a quarter of a century ago, and its biological specimens, clinical, health, omics, and lifestyle data have been included in over 800 publications to date. What makes the biobank unique in...
Genome-wide association studies (GWAS) have significantly advanced the understanding of genetic mechanisms underlying complex human diseases and traits by systematically identifying genetic variants linked to diverse phenotype traits across diverse populations. Large-scale analyses that combine multiple phenotypes are especially valuable, as they c...
The purpose of this study was to find metabolic changes associated with incident hypertension in the volunteer-based Estonian Biobank. We used a subcohort of the Estonian Biobank where metabolite levels had been measured by mass-spectrometry (LC-MS, Metabolon platform). We divided annotated metabolites of 989 individuals into KEGG pathways, followe...
Background
Dopaminergic neuron depletion in the substantia nigra (SN) and the pathological aggregation of α‐synuclein are the neuropathological hallmarks of Parkinson's disease (PD).
Objectives
This study aimed to investigate the association between the polygenic risk score for PD (PD‐PRS) and transcranial sonography (TCS)‐measured SN hyperechogen...
Aims/Purpose: The purpose of this study was to identify new genetic associations of anterior uveitis through genome‐wide association study (GWAS).
Methods: We conducted a GWAS meta‐analysis combining data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 cases and 917 145 controls. A phenome‐wide association study was perform...
Aims/Purpose: The purpose of this study was to identify new genetic associations of anterior uveitis through genome‐wide association study (GWAS).
Methods: We conducted a GWAS meta‐analysis combining data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 cases and 917 145 controls. A phenome‐wide association study was perform...
Purpose: The purpose of this study was to find metabolic changes associated with incident hypertension in the volunteer-based Estonian Biobank. Methods: We used a subcohort of the Estonian Biobank where metabolite levels had been measured by mass-spectrometry (LC-MS, Metabolon platform). We divided annotated metabolites of 989 individuals into KEGG...
Background/aims
The purpose of this study is to define genetic factors associated with anterior uveitis through genome-wide association study (GWAS).
Methods
In this GWAS meta-analysis, we combined data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 anterior uveitis cases and 917 145 controls. We performed a phenome-wide...
Population-based biobanks enable genomic screening to support initiatives that prevent disease onset or slow its progression and to estimate the prevalence of genetic diseases in the population. Wilson’s disease (WD) is a rare genetic copper-accumulation disorder for which timely intervention is crucial, as treatment is readily available. We studie...
Background
Pneumonia risk is influenced by demographics, chronic disease burden, lifestyle, and environmental factors. Despite genome-wide association studies (GWAS), the role of host genetics in pneumonia is still not fully understood, especially in certain subgroups.
Methods
We conducted a GWAS for pneumonia across FinnGen and Estonian Biobank (E...
Importance
Aortic stenosis (AS) and coronary artery disease (CAD) frequently coexist. However, it is unknown which genetic and cardiovascular risk factors might be AS-specific and which could be shared between AS and CAD.
Objective
To identify genetic risk loci and cardiovascular risk factors with AS-specific associations.
Design, Setting, and Pa...
The co-occurrence of multiple chronic conditions, termed multimorbidity, presents an expanding global health challenge, demanding effective diagnostics and treatment strategies. Chronic ailments such as obesity, diabetes, and cardiovascular diseases have been linked to metabolites interacting between the host and microbiota. In this study, we inves...
Introductory paragraph
Over 100 million people worldwide suffer from lumbar spinal stenosis (LSS) with increasing incidence with ageing population, yet little is known about the LSS genetic background. Given the high cost of treating LSS, a deeper understanding of LSS pathogenesis may eventually result in the development of novel preventative and t...
Genome–wide association studies (GWAS) have discovered thousands of replicable genetic associations, guiding drug target discovery and powering genetic prediction of human phenotypes and diseases. However, genetic associations can be affected by gene–environment correlations and non–random mating, which can lead to biased inferences in downstream a...
Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalised medicine. The Estonian Biobank was founded a quarter of a century ago, and its biological specimens, clinical, health, omics, and lifestyle data have been included in over 800 publications to date. What makes the biobank unique in...
Importance: Anterior uveitis is an intraocular disease characterized by inflammation of the iris and the ciliary body and known to co-occur with autoimmune diseases. This is the largest genome-wide association study (GWAS) meta-analysis specifically for anterior uveitis to date.
Objective: The purpose of this study is to define genetic factors asso...
The co-occurrence of multiple chronic conditions, termed multimorbidity, presents an expanding global health challenge, demanding effective diagnostics and treatment strategies. Chronic ailments such as obesity, diabetes, and cardiovascular diseases have been linked to metabolites interacting between the host and microbiota. In this study, we inves...
Population-based biobanks enable genomic screening to support initiatives that prevent disease onset or slow its progression and to estimate the prevalence of genetic diseases in the population. Wilson’s disease (WD) is a rare genetic copper-accumulation disorder for which timely intervention is crucial, as treatment is readily available. We studie...
Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide1,2. GDM is related to an increased lifetime risk of type 2 diabetes (T2D)1–3, with over a third of women developing T2D within 15 years of their GDM diagnosis. The diseases are hypothesized to share a genetic predispositi...
Introductory paragraph
Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs ¹ , the genetic basis of LDH has received relatively little research. Our aim was to increase understanding of the genetic factors influencing LDH. We performed a genome-wide association anal...
Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81...
Psoriasis is an inflammatory skin disease with an estimated heritability of around 70 %. Previous genome-wide association studies (GWASs) have detected several risk loci for psoriasis. To further improve the understanding of the genetic risk factors impacting the disease, we conducted a discovery GWAS in FinnGen and a subsequent replication and met...
Background
Ischemic stroke (IS) is a major health risk without generally usable effective measures of primary prevention. Early warning signals that are easy to detect and widely available can save lives. Estonia has one nation-wide Electronic Health Record (EHR) database for the storage of medical information of patients from hospitals and primary...
Acne vulgaris is a common chronic skin disorder presenting with comedones, cystic structures forming within the distal hair follicle, and in most cases additionally with inflammatory skin lesions on the face and upper torso. We performed a genome-wide association study and meta-analysis of data from 34,422 individuals with acne and 364,991 controls...
Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is we...
Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N=1,086,394, replication N=3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 n...
The return of individual genomic results (ROR) to research participants is still in its early phase, and insight on how individuals respond to ROR is scarce. Studies contributing to the evidence base for best practices are crucial before these can be established. Here, we describe a ROR procedure conducted at a population-based biobank, followed by...
Although hereditary breast cancer screening and management are well accepted and established in clinical settings, these efforts result in the detection of only a fraction of genetic predisposition at the population level. Here, we describe our experience from a national pilot study (2018–2021) in which 180 female participants of Estonian biobank (...
Recall-by-genotype (RbG) studies conducted with population-based biobank data remain urgently needed, and follow-up RbG studies, which add substance to this research approach, remain solitary. In such studies, potentially disease-related genotypes are identified and individuals with those genotypes are recalled for consultation to gather more detai...
Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles in any gene is often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%), which survived the founding bottleneck, as opposed to being distributed over a much larger number of ultra--rare...
Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1/2 genes conferring a high risk of familial breast and ovarian cancer. Participants of the Estonian biobank have expressed support for the disclosure of clinically significant findings. With an Estonian biobank cohort, we applied a genotype-first appro...
Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1/2 genes conferring a high risk of familial breast and ovarian cancer. Participants of the Estonian biobank have expressed support for the disclosure of clinically significant findings. With an Estonian biobank cohort, we applied a genotype-first appro...
Purpose:
Large-scale, population-based biobanks integrating health records and genomic profiles may provide a platform to identify individuals with disease-predisposing genetic variants. Here, we recall probands carrying familial hypercholesterolemia (FH)-associated variants, perform cascade screening of family members, and describe health outcome...
Background
Human basonuclin 2 (BNC2) acts as a tumor suppressor in multiple cancers in an as yet unidentified manner. The role and expression of the BNC2 gene in lung cancer has not yet been investigated. MethodsBNC2 expression was studied in the A549 and BEAS-2B cell lines, as well as in lung cancer tissue. Illumina array analysis and a viability...
Purpose:
Inguinal hernia repair is one of the most common procedures in general surgery. Males are seven times more likely than females to develop a hernia and have a 27 % lifetime 'risk' of inguinal hernia repair. Several studies have demonstrated that a positive family history is an important risk factor for the development of primary inguinal h...
Background:
Procedural guidelines for disclosure of incidental genomic information are lacking.
Methods:
We introduce a method and evaluated the impact of returning results to population biobank participants with 16p11.2 copy number variants, which are commonly associated with neurodevelopmental disorders and BMI imbalance. Of the 7877 participa...
Background:
600 kb BP4-BP5 Copy Number Variants (CNVs) at the 16p11.2 locus have been associated with a range of neurodevelopmental conditions including autism spectrum disorders and schizophrenia. The number of genomic copies in this region is inversely correlated with body mass index (BMI): The deletion is associated with a highly penetrant form...
Background:
Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of these two CNVs have not yet been reported.
Methods:
This study investigates the relationship be...
The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such as intellectual disability has been almost exclusively evaluated using clinically ascertained cohorts. The contribution of these genetic variants to cognitive phenotypes in the general population remains...
Questions
Question (1)
According to the global maps of air quality, the regions/cities that are hit most heavily by COVID-19, are those with concentrated coal and metal industry, wide household gas usage and heavy traffic (e.g. follow PM2.5, NO2, metals like Co, Cu, Zn). Inhabitants/workers of these regions may have already pre-triggered up-regulation of ACE2 as a long-time balancing mechanism to overcome the chronic lack of O2 (similar to those in chronic disease). Could extra early O2 therapy in handling COVID-19 patients (started a.s.a.p., not waiting until clear clinical signs of hypoxia, maybe right when arriving at the hospital, and carried on for 2-3 days), somewhat smoothen the unfavorable course of the disease? The idea is, if started later, there will probably be not enough time for the change in expression.
/anu.reigo@ut.ee, Estonia/
