Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.

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^-12), both likely affecting the functioning of the leptin-melanocortin pathway. POMC:p.Glu206* was observed in different North-European populations, suggesting a b

SUBMITTER: Abner E 

PROVIDER: S-EPMC12508233 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature