A5022041636- Neonatal Respiratory Health Research
- Preterm Birth and Chorioamnionitis
- Genetic Associations and Epidemiology
- Birth, Development, and Health
- Pregnancy and preeclampsia studies
- Infant Nutrition and Health
- Respiratory viral infections research
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Lipoproteins and Cardiovascular Health
- Systemic Lupus Erythematosus Research
- Ovarian function and disorders
- Immune Cell Function and Interaction
- Asthma and respiratory diseases
- Ocular Diseases and Behçet’s Syndrome
- Congenital Diaphragmatic Hernia Studies
- Renal Diseases and Glomerulopathies
- BRCA gene mutations in cancer
- Lipid metabolism and biosynthesis
- Lipid metabolism and disorders
- Bioinformatics and Genomic Networks
- Sleep and related disorders
- Glaucoma and retinal disorders
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Neonatal and Maternal Infections
- Bat Biology and Ecology Studies
University of Oulu
2015-2025
Institute for Molecular Medicine Finland
2018-2025
University of Helsinki
2018-2025
Finnish Institute for Health and Welfare
2023-2024
Northern Ostrobothnia Hospital District
2019-2022
Borealis (Finland)
2019-2022
Oulu University Hospital
2014-2019
Cincinnati Children's Hospital Medical Center
2018
March of Dimes
2018
Statens Serum Institut
2018
Despite evidence that genetic factors contribute to the duration of gestation and risk preterm birth, robust associations with variants have not been identified. We used large data sets included gestational determine possible associations.
Abstract Genome-wide association analyses using high-throughput metabolomics platforms have led to novel insights into the biology of human metabolism 1–7 . This detailed knowledge genetic determinants systemic has been pivotal for uncovering how pathways influence biological mechanisms and complex diseases 8–11 Here we present a genome-wide study 233 circulating metabolic traits quantified by nuclear magnetic resonance spectroscopy in up 136,016 participants from 33 cohorts. We identify...
Abstract Genome-wide association studies (GWASs) may help inform the etiology of infertility. Here, we perform GWAS meta-analyses across seven cohorts in up to 42,629 cases and 740,619 controls identify 25 genetic risk loci for male female We additionally 269 associated with follicle-stimulating hormone, luteinizing estradiol testosterone through sex-specific ( n = 6,095–246,862). Exome sequencing analyses reveal that women carrying testosterone-lowering rare variants some genes are at...
Preterm birth is the major cause of neonatal death and serious morbidity. Most preterm births are due to spontaneous onset labor without a known or effective prevention. Both maternal fetal genomes influence predisposition (SPTB), but susceptibility loci remain be defined. We utilized combination unique population structures, family-based linkage analysis, subsequent case-control association identify haplotype for SPTB. Clinically well-characterized SPTB families from northern Finland,...
Abstract Genome-wide association studies (GWASs) may help inform treatments for infertility, whose causes remain unknown in many cases. Here we present GWAS meta-analyses across six cohorts male and female infertility up to 41,200 cases 687,005 controls. We identified 21 genetic risk loci ( P ≤5E-08), of which 12 have not been reported any reproductive condition. found positive correlations between endometriosis all-cause r g =0.585, =8.98E-14), polycystic ovary syndrome anovulatory =0.403,...
Spontaneous preterm birth (SPTB) is the leading cause of neonatal death and morbidity worldwide. Both maternal fetal genetic factors likely contribute to SPTB. We performed a genome-wide association study (GWAS) on population Finnish origin that included 247 infants with SPTB (gestational age [GA] < 36 weeks) 419 term controls (GA 38-41 weeks). The strongest signal came within gene encoding slit guidance ligand 2 (SLIT2; rs116461311, minor allele frequency 0.05, p = 1.6×10-6). Pathway...
Preterm birth is a leading cause of morbidity and mortality in infants. Genetic environmental factors play role the susceptibility to preterm birth, but despite many investigations, genetic basis for remain largely unknown. Our objective was identify rare, possibly damaging, nucleotide variants mothers from families with recurrent spontaneous births (SPTB). DNA samples 17 Finnish who delivered at least one infant were subjected whole exome sequencing. All northern origin seven multiplex...
Preterm birth is the major cause of neonatal mortality and morbidity. In many cases, it has severe life-long consequences for health neurological development newborn child. More than 50% all preterm births are spontaneous, currently there no effective prevention. Several studies suggest that genetic factors play a role in spontaneous (SPTB). However, its background insufficiently characterized. The aim present study was to perform linkage analysis X chromosomal markers SPTB large northern...
Bronchopulmonary dysplasia (BPD) is a common chronic lung disease associated with very preterm birth. The major risk factors include inflammation and immaturity. In addition, genetic play an important role in susceptibility to moderate-to-severe BPD. this study, the aim was investigate whether polymorphisms of specific genes that are involved or differentiation have influence on BPD susceptibility. Genes encoding interleukin-6 (IL6) its receptors (IL6R IL6ST), IL-10 (IL10), tumor necrosis...
Aims/Purpose: The purpose of this study was to identify new genetic associations anterior uveitis through genome‐wide association (GWAS). Methods: We conducted a GWAS meta‐analysis combining data from the FinnGen, Estonian Biobank and UK with total 12 205 cases 917 145 controls. A phenome‐wide performed investigate across phenotypes traits. Genetic correlations were evaluated. Results: detected six associated genomic regions significance ( p < 5 × 10 ‐8 ). Three novel loci identified:...
Aims/Purpose: The purpose of this study was to identify new genetic associations anterior uveitis through genome‐wide association (GWAS). Methods: We conducted a GWAS meta‐analysis combining data from the FinnGen, Estonian Biobank and UK with total 12 205 cases 917 145 controls. A phenome‐wide performed investigate across phenotypes traits. Genetic correlations were evaluated. Results: detected six associated genomic regions significance ( p < 5 × 10 ‐8 ). Three novel loci identified:...
Importance: Allergic conjunctivitis, a common presentation of allergy, co-occurs frequently with allergic rhinitis, atopic eczema and asthma. Despite its high prevalence, the genetic factors contributing to conjunctivitis have not been characterized in detail. Objective: We aimed characterize associated both relation independent systemic or conditions through genome-wide association study (GWAS) meta-analysis. Design, setting participants: performed GWAS meta-analysis utilizing data from...
Abstract Bronchiolitis is a major cause of hospitalization among infants. Severe bronchiolitis associated with later asthma, suggesting common genetic predisposition. Genetic background not well characterized. To identify polymorphisms bronchiolitis, we conducted genome-wide association study (GWAS) in which 5,300,000 single nucleotide (SNPs) were tested for Finnish–Swedish population 217 children hospitalized and 778 controls. The most promising SNPs (n = 77) genotyped Dutch replication 416...
Spontaneous preterm birth (SPTB) is a major factor associating with deaths and lowered quality of life in humans. Environmental genetic factors influence the susceptibility. Previously, by analyzing families recurrent SPTB linkage analysis, we identified peak close to gene encoding CXCR3. Present objectives were investigate association CXCR3 Finnish mothers (n = 443) infants 747), analyze expression levels human placenta its ligands umbilical cord blood, verify Cxcr3 on SPTB-associating...
Background. Adenosine triphosphate (ATP)‐binding cassette transporter A3 (ABCA3) gene mutations cause fatal respiratory failure in term infants, but common ABCA3 polymorphisms have remained uncharacterized at the population level.
Abstract Bronchopulmonary dysplasia (BPD), the main consequence of prematurity, has a significant heritability, but little is known about predisposing genes. The aim this study was to identify gene loci infants BPD. initial genome-wide association (GWAS) included 174 Finnish preterm gestational age 24–30 weeks. Thereafter, most promising single-nucleotide polymorphisms (SNPs) associated with BPD were genotyped in both ( n = 555) and non-Finnish 388) replication cohorts. Finally, plasma CRP...
Abstract STUDY QUESTION Can a genome-wide association study (GWAS) meta-analysis, including large sample of young premenopausal women from founder population Northern Finland, identify novel genetic variants for circulating anti-Müllerian hormone (AMH) levels and provide insights into single-nucleotide polymorphism enrichment in different biological pathways tissues involved AMH regulation? SUMMARY ANSWER The meta-analysis identified total six loci associated with at P &lt; 5 × 10−8,...
<b><i>Background:</i></b> Bronchopulmonary dysplasia (BPD) is one of the main consequences prematurity, with notably high heritability. Vascular endothelial growth factor A (VEGF-A) and its receptor, vascular receptor 2 (VEGFR-2), have been implicated in pathogenesis BPD. <b><i>Objective:</i></b> To study whether common polymorphisms genes encoding VEGF-A VEGFR-2 are associated <b><i>Methods:</i></b> In this association...
Abstract Heat shock proteins are involved in the response to stress including activation of immune response. Elevated circulating heat associated with spontaneous preterm birth (SPTB). Intracellular act as multifunctional molecular chaperones that regulate activity nuclear hormone receptors. Since SPTB has a significant genetic predisposition, our objective was identify and transcriptomic evidence receptors may affect risk for SPTB. We investigated all 97 genes encoding members protein...