Mitja Kurki
A5017396611- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Intracranial Aneurysms: Treatment and Complications
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Cerebrospinal fluid and hydrocephalus
- Moyamoya disease diagnosis and treatment
- Migraine and Headache Studies
- Epigenetics and DNA Methylation
- Neurosurgical Procedures and Complications
- Bioinformatics and Genomic Networks
- Intracerebral and Subarachnoid Hemorrhage Research
- Traumatic Brain Injury and Neurovascular Disturbances
- Cerebrovascular and Carotid Artery Diseases
- Genetic Mapping and Diversity in Plants and Animals
- Cancer-related molecular mechanisms research
- Pregnancy and preeclampsia studies
- Birth, Development, and Health
- Neuroscience of respiration and sleep
- Genetic and phenotypic traits in livestock
- Thyroid Disorders and Treatments
- Genetic and Kidney Cyst Diseases
- BRCA gene mutations in cancer
- Gene expression and cancer classification
- Lipid metabolism and biosynthesis
Massachusetts General Hospital
2016-2025
Broad Institute
2016-2025
Institute for Molecular Medicine Finland
2014-2024
University of Helsinki
2014-2024
Kuopio University Hospital
2011-2024
Helsinki University Hospital
2014-2024
University of Eastern Finland
2011-2024
Harvard University
2016-2023
Finland University
2014-2023
Finnish Red Cross
2023
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation DNA sequence changes. Here we describe aggregation analysis high-quality exome (protein-coding region) 60,706 individuals diverse ancestries generated as part Exome Aggregation Consortium (ExAC). This catalogue diversity contains an average one variant every eight bases exome, provides direct evidence presence widespread mutational recurrence. We have used this to calculate...
Abstract 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 survived the founding bottleneck rather than being distributed over large ultrarare variants. Although this effect is well established Mendelian genetics, its value common disease genetics less explored 1,2 . FinnGen aims to study genome and national health register data...
ABSTRACT Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles any gene is often concentrated on a small number low-frequency variants (0.1% ≤ minor allele frequency < 5%), which survived founding bottleneck, opposed to being distributed over much larger ultra--rare variants. While this advantage well-- established Mendelian genetics, its value common disease genetics has been less explored. FinnGen aims study genome and...
Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses 141 species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10 −8 ), 10 which associate risk including five new loci- COL5A1 , GLTPD2 SPTLC3 MBOAT7 GALNT16 (false...
There is currently limited understanding of the genetic aetiology obstructive sleep apnoea (OSA). We aimed to identify loci associated with OSA risk, and test if its comorbidities share a common background. conducted first large-scale genome-wide association study using FinnGen (217 955 individuals) 16 761 patients identified nationwide health registries. estimated 0.08 (95% CI 0.06–0.11) heritability five (p<5.0×10 −8 ): rs4837016 near GAPVD1 (GTPase activating protein VPS9 domains 1),...
Genome-wide association studies (GWAS) have identified thousands of genetic variants linked to the risk human disease. However, GWAS so far remained largely underpowered in relation identifying associations rare and low-frequency allelic spectrum lacked resolution trace causal mechanisms underlying genes
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However, few studies thoroughly investigated their best practices global populations across different diseases. We here utilized data from Global Biobank Meta-analysis Initiative (GBMI) to explore methodological considerations and PRS performance 9 biobanks for 14 disease endpoints. Specifically, we constructed PRSs using pruning thresholding (P + T) PRS-continuous shrinkage (CS). For both methods, a European-based...
Abstract Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics 1 . Population bottleneck events, such as those that occurred the history of Finnish population, enrich some homozygous variants to higher frequencies, which facilitates identification cause with recessive inheritance 2,3 Here we examine heterozygous effects 44,370 coding on 2,444 disease phenotypes using data from nationwide electronic health records 176,899 individuals. We find...
Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide
Summary Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation DNA sequence changes. Here we describe aggregation analysis high-quality exome (protein-coding region) 60,706 individuals diverse ethnicities generated as part Exome Aggregation Consortium (ExAC). The resulting catalogue diversity contains an average one variant every eight bases exome, provides direct evidence presence widespread mutational recurrence. We show that...
Aneurysmal subarachnoid hemorrhage, almost always from saccular intracranial aneurysm (sIA), is a devastating form of stroke that affects the working-age population. Cellular and molecular mechanisms predisposing to rupture sIA wall are largely unknown. This knowledge would facilitate design novel diagnostic tools therapies for disease.To investigate gene expression patterns distinguishing ruptured unruptured sIA.We compared whole-genome profile 11 samples with 8 ones using oligonucleotide...
Abstract Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. To better understand the genetic contribution to TSH levels, we conduct a GWAS meta-analysis at 22.4 million markers in up 119,715 individuals identify 74 genome-wide significant loci TSH, of which 28 are previously unreported. Functional experiments show that thyroglobulin protein-altering variants P118L G67S impact secretion. Phenome-wide association analysis UK Biobank demonstrates pleiotropic...
Idiopathic normal pressure hydrocephalus (iNPH) causes cognitive decline that can be alleviated by shunting, but long-term outcome studies are scarce.To elucidate the condition of shunt-responsive iNPH patients.The follow-up data (Kuopio University Hospital NPH Registry) 146 patients diagnosed with clinical and radiological examination, 24-hour intraventricular monitoring, frontal cortical biopsy, response to shunt were analyzed for signs dementia. The Diagnostic Statistical Manual Mental...
Abstract Genome-wide association studies (GWAS) are not fully comprehensive, as current strategies typically test only the additive model, exclude X chromosome, and use one reference panel for genotype imputation. We implement an extensive GWAS strategy, GUIDANCE, which improves imputation by using multiple panels includes analysis of chromosome non-additive models to association. apply this methodology 62,281 subjects across 22 age-related diseases identify 94 genome-wide associated loci,...