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Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects
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Abstract
Body mass and body fat composition are of clinical interest due to their links to cardiovascular- and metabolic diseases. Fat stored in the trunk has been suggested to be more pathogenic compared to fat stored in other compartments. In this study, we perform genome-wide association studies (GWAS) for the proportion of body fat distributed to the arms, legs and trunk estimated from segmental bio-electrical impedance analysis (sBIA) for 362,499 individuals from the UK Biobank. 98 independent associations with body fat distribution are identified, 29 that have not previously been associated with anthropometric traits. A high degree of sex-heterogeneity is observed and the effects of 37 associated variants are stronger in females compared to males. Our findings also implicate that body fat distribution in females involves mesenchyme derived tissues and cell types, female endocrine tissues as well as extracellular matrix maintenance and remodeling.
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“Importantly, the genetic factors that help determine fat distribution are largely distinct from those that affect overall adiposity as estimated by BMI.78,94”
From Definition and diagnostic criteria of clinical obesity (2025) · cites this paper as [94]
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“Genome-wide association studies have identified several hundred common variants that influence food intake, basal metabolic rate, and the energy used during a fixed amount of exercise.92–94”
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Metadata
- Authors
- Rask-Andersen, M., Karlsson, T., Ek, W. E., & Johansson, Å.
- Affiliations
- Uppsala University (SE)
- Corresponding author
- Johansson, Åsa
- Venue
- Nature Communications
- Published
- 2019-01-21
- Volume
- 10
- Issue
- 1
- Pages
- 339-339
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC6341104
- OpenAlex
- W2908665501
- Cited by
- 245
- References
- 56
- Citations by year
- 2026: 17 · 2025: 25 · 2024: 22 · 2023: 37 · 2022: 63 · 2021: 41 · 2020: 29 · 2019: 11
- FWCI
- 21.70
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- KTH Publication Database DiVA (KTH Royal Institute of Technology) (submittedVersion, other-oa)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Åke Wiberg Stiftelse
- Svenska Sällskapet för Medicinsk Forskning
- Hjärt-Lungfonden
- Medical Research Council (MC_PC_17228)
- Uppsala Multidisciplinary Center for Advanced Computational Science
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
- Health Sciences › Medicine › Physiology (medical) › Body Composition Measurement Techniques
- Keywords
- body fat distribution, trunk fat, sex-specific genetic effects, segmental bioelectrical impedance analysis, anthropometric traits, mesenchyme, extracellular matrix remodeling, obesity genetics
- MeSH terms
- Adipose Tissue, Anthropometry, Arm, Body Weight, Endocrine Glands, Female, Gene Expression Regulation, United Kingdom, Humans, Leg, Male, Obesity, Sex Factors, Body Mass Index, Electric Impedance, Biological Specimen Banks, Genetic Heterogeneity, Polymorphism, Single Nucleotide, Gene Expression Profiling, Waist-Hip Ratio, Body Fat Distribution, Genome-Wide Association Study, Genetic Loci, Torso
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