ArticleNature communications2025
Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.
Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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
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