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Discovery genome-wide association study of body composition in 4,386 adults from the UK Biobank's Pilot Imaging Enhancement Study

Livingstone, Katherine M., Tan, M H, Abbott, Gavin, Duckham, Rachel L., Croft, Larry, Ward, Joey, McEvoy, Mark, Keske, Michelle A., Austin, Christopher and Bowe, Steven J. 2021, Discovery genome-wide association study of body composition in 4,386 adults from the UK Biobank's Pilot Imaging Enhancement Study, Frontiers in endocrinology, vol. 12, pp. 1-7, doi: 10.3389/fendo.2021.692677.

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Title Discovery genome-wide association study of body composition in 4,386 adults from the UK Biobank's Pilot Imaging Enhancement Study
Author(s) Livingstone, Katherine M.ORCID iD for Livingstone, Katherine M. orcid.org/0000-0002-9682-7541
Tan, M H
Abbott, GavinORCID iD for Abbott, Gavin orcid.org/0000-0003-4014-0705
Duckham, Rachel L.ORCID iD for Duckham, Rachel L. orcid.org/0000-0001-7882-2950
Croft, LarryORCID iD for Croft, Larry orcid.org/0000-0001-8471-2408
Ward, Joey
McEvoy, Mark
Keske, Michelle A.ORCID iD for Keske, Michelle A. orcid.org/0000-0003-4214-7628
Austin, ChristopherORCID iD for Austin, Christopher orcid.org/0000-0003-1848-6267
Bowe, Steven J.ORCID iD for Bowe, Steven J. orcid.org/0000-0003-3813-842X
Journal name Frontiers in endocrinology
Volume number 12
Article ID 692677
Start page 1
End page 7
Total pages 7
Publisher Frontiers Media
Place of publication Lausanne, Switzerland
Publication date 2021-06
ISSN 1664-2392
1664-2392
Keyword(s) body composition
bone mass
dual energy X-ray absorptiometry
Endocrinology & Metabolism
fat mass
genetics
genome-wide association study
INSIGHTS
lean mass
Life Sciences & Biomedicine
loci
MASS
MECHANISM
Science & Technology
Summary Body composition (fat, skeletal muscle and bone mass) is an important determinant of overall health and risk of endocrine disorders such as type 2 diabetes and osteoporosis. Although diet and physical activity are strongly implicated, body composition is also heritable. We conducted a discovery genome-wide association study on 31 phenotypes from the three-compartment body composition model (fat, lean and bone mass) in a set of 4 386 individuals (n = 2 109 males, n = 2 294 females) from the UK Biobank pilot imaging enhancement program that underwent a dual energy X-ray absorptiometry (DXA) scan for assessment of body composition and genetic screening. From 6 137 607 imputed single nucleotide polymorphisms (SNPs) we identified 17 body composition loci (P<5.0 x 10-8). GWAS from the combined dataset identified four statistically significant SNPs (rs7592270, rs145972737, rs13212044, rs77772562). In sex-stratified GWAS, 10 male specific SNPs across all traits were identified and five female specific SNPs. Of the 17 SNPs, six were in or close to a gene where there was a plausible functional connection. Three SNPs (rs7592270, rs77772562 and rs7552312) were correlated with obesity phenotypes, one SNP (rs2236705) with lean phenotypes and two with bone mass phenotypes (rs112098641 and rs113380185). These results highlight candidate genes and biological pathways related to body composition, including glucose metabolism and estrogen regulation, that are of interest to replicate in future studies.
Language eng
DOI 10.3389/fendo.2021.692677
Indigenous content off
Field of Research 1103 Clinical Sciences
1111 Nutrition and Dietetics
HERDC Research category C1 Refereed article in a scholarly journal
ERA Research output type C Journal article
Free to Read? Yes
Persistent URL http://hdl.handle.net/10536/DRO/DU:30153550

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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.