{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Abner E"],"funding":["EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj)","Eesti Teadusagentuur","Ministry of Education and Research | Estonian Research Competency Council","Ministry of Education and Research | Estonian Research Competency Council (Research Competency Council)","Eesti Teadusagentuur (Estonian Research Council)","EC | Horizon 2020 Framework Programme","EC | European Regional Development Fund","EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020)"],"pagination":["8956"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12508233"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(1)"],"pubmed_abstract":["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 genome-wide significant loci. Among those hits, we identified a common non-coding variant within the newly associated ADGRL3 gene (-0.18 kg/m²; P = 3.21 × 10⁻⁹). Moreover, the missense rare variant PTPRT:p.Arg1384His associated with lower BMI (-0.44 kg/m²; P = 2.51 × 10⁻¹⁰), while the protein-truncating variant POMC:p.Glu206* was associated with considerably higher BMI (+ 0.81 kg/m²; P = 1.48 × 10<sup>-12</sup>), both likely affecting the functioning of the leptin-melanocortin pathway. POMC:p.Glu206* was observed in different North-European populations, suggesting a b"],"journal":["Nature communications"],"pubmed_title":["Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS."],"pmcid":["PMC12508233"],"funding_grant_id":["TK218","PSG615","PRG1291","101060011","101137154","101117251","MOBEC008","PSG809","PRG1911","PRG1117","PRG1414","101080117","810645","101137201"],"pubmed_authors":["Kisand K","Haapaniemi H","Tillmann T","Nikopensius T","Vainik U","Alekseienko A","Vosa U","Estonian Biobank Research Team","Haljasmagi L","Ollila HM","Kariis HM","Taba N","Esko T","Magi R","Metspalu A","Milani L","Metspalu M","Ramo J","Batool K","Eriksson A","Nelis M","Abner E","Hudjashov G","Lehto K","Lall K"],"additional_accession":[]},"is_claimable":false,"name":"Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.","description":"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 genome-wide significant loci. Among those hits, we identified a common non-coding variant within the newly associated ADGRL3 gene (-0.18 kg/m²; P = 3.21 × 10⁻⁹). Moreover, the missense rare variant PTPRT:p.Arg1384His associated with lower BMI (-0.44 kg/m²; P = 2.51 × 10⁻¹⁰), while the protein-truncating variant POMC:p.Glu206* was associated with considerably higher BMI (+ 0.81 kg/m²; P = 1.48 × 10<sup>-12</sup>), both likely affecting the functioning of the leptin-melanocortin pathway. POMC:p.Glu206* was observed in different North-European populations, suggesting a b","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Oct","modification":"2026-06-04T09:19:59.754Z","creation":"2026-05-07T03:12:50.899Z"},"accession":"S-EPMC12508233","cross_references":{"pubmed":["41062462"],"doi":["10.1038/s41467-025-64006-9"]}}