A5064411496- Nutrition, Genetics, and Disease
- Regulation of Appetite and Obesity
- Genomics and Rare Diseases
- Immune Response and Inflammation
- Biochemical Analysis and Sensing Techniques
- Microbial infections and disease research
- Animal Disease Management and Epidemiology
University of Tartu
2024
Virtual University of Pakistan
2020
Genome-wide association studies (GWAS) have significantly advanced the understanding of genetic mechanisms underlying complex human diseases and traits by systematically identifying variants linked to diverse phenotype across populations. Large-scale analyses that combine multiple phenotypes are especially valuable, as they can reveal shared architectures patterns comorbidity, refining disease classification risk prediction. Here, we conducted comprehensive GWAS based on Estonian Biobank EHR...
<title>Abstract</title> Population-specific genome-wide association studies can reveal high-impact genomic variants that influence traits like body-mass index (BMI). Using the Estonian Biobank BMI dataset (n=204,747 participants) we identified 214 significant loci. Among those hits, a common non-coding variant within newly associated ADGRL3 gene (-0.18 kg/m²; P = 3.06 × 10⁻⁹). Moreover, missense rare PTPRT:p.Arg1384His with lower (-0.44 2.5 10⁻¹⁰), while protein-truncating POMC:p.Glu206* was...