Prevalence and impact of a protein-truncating POMC variant on obesity in the Estonian Biobank
Erik Abner,
Kanwal Batool,
Nele Taba
et al.
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 = 3.06 × 10⁻⁹). Moreover, the missense rare variant PTPRT:p.Arg1384His associated with lower BMI (-0.44 kg/m²; P = 2.5 × 10⁻¹⁰), while the protei… Show more
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