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Prevalence and impact of a protein-truncating POMC variant on obesity in the Estonian Biobank
Open accessPreprint — published as 10.1038/s41467-025-64006-9 · Paper page
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 protein-truncating variant POMC:p.Glu206* was associated with considerably higher BMI (+0.81 kg/m²; P = 1.5 × 10-12), both likely affecting the functioning of the leptin-melanocortin pathway. POMC:p.Glu206* was observed in different North-European populations, suggesting a broader, yet elusive, distribution of this damaging variant. These observations indicate the novel roles of the ADGRL3 and PTPRT genes in body weight regulation and suggest an increased prevalence of the POMC:p.Glu206* variant in European populations, offering avenues for developing interventions in obesity management.
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Highly accurate protein structure prediction with AlphaFold
Jumper, J., Evans, R., Pritzel, A., Green, T., Figurnov, M., Ronneberger, O., Tunyasuvunakool, K., Bates, R., Žídek, A., Potapenko, A., et al. (2021) · Nature · doi:10.1038/s41586-021-03819-2 · Cited by 43,764
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Metadata
- Authors
- Abner, E., Batool, K., Taba, N., Nikopensius, T., Läll, K., Alekseienko, A., Eriksson, A., Rämö, J., Kariis, H. M., Haljasmägi, L., Võsa, U., Tillmann, T., Vainik, U., Lehto, K., Kisand, K., Esko, T., & Team, E. B. R.
- Affiliations
- University of Tartu (EE)
- Metrosert (EE)
- University of Helsinki (FI)
- McGill University (CA)
- University of Tartu
- Estonian Biobank
- Corresponding author
- Abner, Erik
- Batool, Kanwal
- ORCID
- Venue
- Nature Communications
- Published
- 2024-08-07
- Volume
- 16
- Issue
- 1
- Pages
- 8956-8956
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC12508233
- OpenAlex
- W4414932949
- Cited by
- 2
- References
- 1
- Citations by year
- 2026: 2
- FWCI
- 1.17
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Research Square (acceptedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed (publishedVersion)
- PubMed Central (publishedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Työväentutkimus Vuosikirja (submittedVersion)
- Funders
- European Commission (101080117, 101137154, MOBEC008, 894987, 101060011, 101137201, 810645, 101117251)
- Eesti Teadusagentuur (TK214, PSG615, TK218, PRG1911, PRG1291, PRG1414, PSG809, PRG1117)
- Tartu Ülikool
- Horizon 2020 Framework Programme (101080117, 810645, 101060011, 101117251, 101137154, 101137201)
- Research Executive Agency
- Estonian Research Competency Council (TK218)
- European Regional Development Fund (MOBEC008)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Regulation of Appetite and Obesity
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- body mass index, obesity genetics, Estonian Biobank, ADGRL3, PTPRT, proopiomelanocortin, missense mutations, truncating mutations, non-coding variants, leptin-melanocortin pathway, body weight regulation, rare variants, European populations
- MeSH terms
- Adult, Aged, Estonia, Female, Humans, Male, Middle Aged, Obesity, Pro-Opiomelanocortin, Genetic Variation, Body Mass Index, Biological Specimen Banks, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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