Siim Sõber
A5045889226- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Hormonal Regulation and Hypertension
- Birth, Development, and Health
- Diet, Metabolism, and Disease
- Prenatal Screening and Diagnostics
- Cancer-related molecular mechanisms research
- Global Cancer Incidence and Screening
- Pregnancy and preeclampsia studies
- Renin-Angiotensin System Studies
- Bioinformatics and Genomic Networks
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Sperm and Testicular Function
- Hormonal and reproductive studies
- BRCA gene mutations in cancer
- Regulation of Appetite and Obesity
- MicroRNA in disease regulation
- Epigenetics and DNA Methylation
- Receptor Mechanisms and Signaling
- Ion Transport and Channel Regulation
- Cardiovascular Health and Risk Factors
- Mycobacterium research and diagnosis
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
University of Tartu
2011-2025
University of Jordan
2018
Hypertension is a complex disease that affects large proportion of adult population. Although approximately half the inter-individual variance in blood pressure (BP) level heritable, identification genes responsible for its regulation has remained challenging. Genome-wide association study (GWAS) novel approach to search genetic variants contributing diseases. We conducted GWAS three BP traits [systolic and diastolic (SBP DBP); hypertension (HYP)] Kooperative Gesundheitsforschung der Region...
Elevated blood pressure is a major risk factor for cardiovascular disease and has substantial genetic contribution. Genetic variation influencing the potential to identify new pharmacological targets treatment of hypertension. To discover additional novel loci, we used 1000 Genomes Project–based imputation in 150 134 European ancestry individuals sought significant evidence independent replication further 228 245 individuals. We report 6 signals association or near HSPB7 , TNXB LRP12...
Abstract One in five pregnant women suffer from gestational complications, prevalently driven by placental malfunction. Using RNASeq, we analyzed differential gene expression cases of normal gestation, late-onset preeclampsia (LO-PE), diabetes (GD) and pregnancies ending with the birth small-for-gestational-age (SGA) or large-for-gestational-age (LGA) newborns (n = 8/group). In all groups, highest was detected for small noncoding RNAs genes specifically implicated function hormonal...
The outcome of Genome-Wide Association Studies (GWAS) has challenged the field blood pressure (BP) genetics as previous candidate genes have not been among top loci in these scans. We used Affymetrix 500K genotyping data KORA S3 cohort (n = 1,644; Southern-Germany) to address (i) SNP coverage 160 BP genes; (ii) evidence for associations with traits genome-wide and replication data, haplotype analysis. In total, gene regions (genic region±10 kb) covered 2,411 SNPs across 11.4 Mb. Marker...
MicroRNAs (miRNAs) comprise a post-transcriptional layer of gene regulation shown to be involved in diverse physiological processes. We aimed study whether regulatory networks that determine susceptibility hypertension may involve miRNA component. Screening loci, renal water-salt balance regulation, highlighted the mineralocorticoid receptor NR3C2 as potential target for several miRNAs. A luciferase assay demonstrated miR-124 and miR-135a suppress 3'UTR reporter construct activity 1.5-...
Background/Objectives: Polygenic risk scores (PRSs) have been extensively studied and are increasingly applied in healthcare. One of the most developed areas is predictive medicine for breast cancer, but there no wider consensus on indications clinical use PRSs cancer. This current guidance endeavours to articulate scientific evidence underpinning utility stratifying cancer risk, with a particular emphasis application. Methods: has prepared by group experts who active PRS research...
Abstract Recurrent pregnancy loss (RPL) concerns ~3% of couples aiming at childbirth. In the current study, transcriptomes and miRNomes 1 st trimester placental chorionic villi were analysed for 2 RPL cases (≥6 miscarriages) normal, but electively terminated pregnancies (ETP; n = 8). Sequencing was performed on Illumina HiSeq 2000 platform. Differential expression analyses detected 51 (27%) transcripts with increased 138 (73%) decreased in compared to ETP (DESeq: FDR P < 0.1 DESeq2:...
RNA degradation is a ubiquitous process that occurs in living and dead cells, as well during handling storage of extracted RNA. Reduced quality caused by an established source uncertainty for all RNA-based gene expression quantification techniques. sequencing increasingly preferred method transcriptome analyses, dependence its results on input integrity significant practical importance. This study aimed to characterize the effects varying [estimated number (RIN)] transcript level estimates...
Abstract We have previously shown an extensive load of somatic copy number variations (CNVs) in the human placental genome with highest fraction detected normal term pregnancies. Hereby, we hypothesized that insufficient promotion CNVs may impair development and lead to recurrent pregnancy loss (RPL). RPL affects ~3% couples aiming at childbirth idiopathic represents ~50% cases. analysed parental CNV profiles trios (mother-father-placenta) duos (mother-placenta). Consistent hypothesis,...
Mutations in WNK1 and WNK4 cause familial hypertension, the Gordon syndrome. conserved noncoding regions were targeted to polymorphism screening using DHPLC DGGE. The scan identified an undescribed polymorphic AluYb8 insertion intron 10. Screening primates revealed that this Alu-insertion has probably occurred human lineage. Genotyping 18 populations from Europe, Asia, Africa (n = 854) indicated expansion of bearing chromosomes out Africa. allele frequency Sub-Saharan was ~3.3 times lower...
BackgroundEssential hypertension is associated with mitochondrial dysfunction. Because dynamics; morphological changes are closely linked various functions, we aimed to examine whether the genetic variation of mitochondria-shaping genes influenced susceptibility blood pressure (BP) and hypertension.
Abstract Breast cancer (BC) remains the most common malignant tumor site and leading cause of cancer-related deaths in women despite wide availability screening programs personalized treatment options. The BRIGHT study tested a genetic risk-based BC service model younger than 50 years, using telemedicine home-based testing. Participants underwent polygenic risk score monogenic pathogenic variant This type demonstrated feasibility, clinical utility, acceptability. It has potential to enhance...
Abstract Background Conserved non-coding regions (CNR) have been shown to harbor gene expression regulatory elements. Genetic variations in these may potentially contribute complex disease susceptibility. Methods We targeted CNRs of cardiovascular (CVD) candidate gene, Na(+)-Ca(2+) exchanger (NCX1) with polymorphism screening among CVD patients (n = 46) using DHPLC technology. The flanking region (348 bp) the 14 bp indel intron 2 was further genotyped by DGGE assay two Eastern-European...
Statistical associations of numerous single nucleotide polymorphisms with breast cancer (BC) have been identified in genome-wide association studies (GWAS). Recent evidence suggests that a Polygenic Risk Score (PRS) can be useful risk stratification instrument for BC screening strategy, and PRS test has developed clinical use. The performance the is yet unknown Norwegian population.To evaluate models dataset.We investigated sample 1053 cases 7094 controls from different regions Norway....