Common variants near MC4R are associated with fat mass, weight and risk of obesity
Open accessAbstract
To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 x 10(-6)) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 x 10(-15)) and 5,988 children aged 7-11 (0.13 Z-score units; P = 1.5 x 10(-8)). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 x 10(-11)). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) = 2.4 x 10(-4)). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits.
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Variants in loci implicated in Mendelian disorders also contribute to susceptibility to more common forms of disease.
“There are now several examples where variants in loci implicated in Mendelian disorders also contribute to susceptibility to more common forms of disease; these include discoveries related to the genetics of blood lipid levels and coronary artery disease (83, 162), genetics of obesity (100, 163), and the genetics of height (96, 159).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [100]
The underlying loci of these two SNPs, FTO and MC4R, are well established obesity-related loci.
“The underlying loci of these two SNPs, FTO and MC4R, are well established obesity-related loci [35, 36, 45].”
From Causal relationship between obesity and serum testosterone status in men: A bi-directional mendelian randomization analysis (2017) · cites this paper as [36]
Similar results were also obtained using a genetic risk score based solely on the SNP in the FTO gene.
“Secondly, similar results were also obtained using a genetic risk score based solely on the SNP in the FTO gene, which is a gene that has been found to be associated with BMI in numerous studies, where none of the cohorts used in the present study were included [34–36].”
From Causal relationship between obesity and serum testosterone status in men: A bi-directional mendelian randomization analysis (2017) · cites this paper as [36]
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- Authors
- The Prostate, L., Loos, R. J. F., KORA, Study, N. H., Initiative, D. G., Study, T. S., The Wellcome Trust Case Control Consortium, FUSION, Lindgren, C. M., Li, S., Wheeler, E., Zhao, J. H., Prokopenko, I., Inouye, M., Freathy, R. M., Attwood, A. P., Beckmann, J. S., Berndt, S. I., Bergmann, S., Bennett, A. J., Bingham, S. A., Bochud, M., Brown, M., Cauchi, S., Connell, J. M., Cooper, C., Smith, G. D., Day, I., Dina, C., De, S., Dermitzakis, E. T., Doney, A. S. F., Elliott, K. S., Elliott, P., Evans, D. M., Sadaf Farooqi, I., Froguel, P., Ghori, J., Groves, C. J., Gwilliam, R., Hadley, D., Hall, A. S., Hattersley, A. T., Hebebrand, J., Heid, I. M., Herrera, B., Hinney, A., Hunt, S. E., Jarvelin, M.-R., Johnson, T., Jolley, J. D. M., Karpe, F., Keniry, A., Khaw, K.-T., Luben, R. N., Mangino, M., Marchini, J., McArdle, W. L., McGinnis, R., Meyre, D., Munroe, P. B., Morris, A. D., Ness, A. R., Neville, M. J., Nica, A. C., Ong, K. K., O'Rahilly, S., Owen, K. R., Palmer, C. N. A., Papadakis, K., Potter, S., Pouta, A., Qi, L., Randall, J. C., Rayner, N. W., Ring, S. M., Sandhu, M. S., Scherag, A., Sims, M. A., Song, K., Soranzo, N., Speliotes, E. K., Syddall, H. E., Teichmann, S. A., Timpson, N. J., Tobias, J. H., Uda, M., Ganz Vogel, C. I., Wallace, C., Waterworth, D. M., Weedon, M. N., Willer, C. J., Wraight, V. L., Yuan, X., Zeggini, E., Hirschhorn, J. N., Strachan, D. P., Ouwehand, W. H., Caulfield, M. J., Samani, N. J., Frayling, T. M., Vollenweider, P., Waeber, G., Mooser, V., Deloukas, P., McCarthy, M. I., Wareham, N. J., & Barroso, I.
- Affiliations
- Addenbrooke's Hospital (GB)
- Centre for Human Genetics (GB)
- Wellcome Sanger Institute (GB)
- United States Department of Health and Human Services (US)
- University of Exeter (GB)
- National Health Service (GB)
- University of Cambridge (GB)
- Centre National de la Recherche Scientifique (FR)
- SIB Swiss Institute of Bioinformatics (CH)
- University of Bristol (GB)
- Centre Hospitalier Universitaire Vaudois (CH)
- University of Dundee (GB)
- University of Southampton (GB)
- MRC Laboratory of Molecular Biology (GB)
- University of London (GB)
- Churchill Hospital (GB)
- University of Leeds (GB)
- University of Duisburg-Essen (DE)
- Queen Mary University of London (GB)
- University of Leicester (GB)
- Oulu University Hospital (FI)
- Harvard University (US)
- Broad Institute (US)
- University of Michigan (US)
- Corresponding author
- McCarthy, Mark I
- Wareham, Nicholas J
- Barroso, Inês
- ORCID
- Loos, Ruth J F
- Lindgren, Cecilia M
- Li, Shengxu
- Wheeler, Eleanor
- Zhao, Jing Hua
- Prokopenko, Inga
- Inouye, Michael
- Freathy, Rachel M
- Beckmann, Jacques S
- Berndt, Sonja I
- Bergmann, Sven
- Bennett, Amanda J
- Brown, Morris
- Cauchi, Stéphane
- Cooper, Cyrus
- Smith, George Davey
- De, Subhajyoti
- Dermitzakis, Emmanouil T
- Doney, Alex S F
- Elliott, Katherine S
- Elliott, Paul
- Evans, David M
- Froguel, Philippe
- Hall, Alistair S
- Hattersley, Andrew T
- Hebebrand, Johannes
- Heid, Iris M
- Herrera, Blanca
- Hinney, Anke
- Hunt, Sarah E
- Johnson, Toby
- Karpe, Fredrik
- Khaw, Kay-Tee
- Luben, Robert N
- Mangino, Massimo
- Marchini, Jonathan
- McGinnis, Ralph
- Meyre, David
- Munroe, Patricia B
- Neville, Matthew J
- Ong, Ken K
- Owen, Katharine R
- Qi, Lu
- Ring, Susan M
- Sandhu, Manjinder S
- Scherag, André
- Soranzo, Nicole
- Speliotes, Elizabeth K
- Syddall, Holly E
- Teichmann, Sarah A
- Timpson, Nicholas J
- Tobias, Jonathan H
- Uda, Manuela
- Wallace, Chris
- Waterworth, Dawn M
- Weedon, Michael N
- Willer, Cristen J
- Yuan, Xin
- Zeggini, Eleftheria
- Hirschhorn, Joel N
- Strachan, David P
- Ouwehand, Willem H
- Caulfield, Mark J
- Samani, Nilesh J
- Frayling, Timothy M
- Mooser, Vincent
- Deloukas, Panos
- McCarthy, Mark I
- Wareham, Nicholas J
- Barroso, Inês
- Venue
- Nature Genetics
- Published
- 2008-05-04
- Volume
- 40
- Issue
- 6
- Pages
- 768-775
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2669167
- OpenAlex
- W2098161436
- Cited by
- 1,325
- References
- 34
- Citations by year
- 2026: 20 · 2025: 28 · 2024: 14 · 2023: 38 · 2022: 27 · 2021: 53 · 2020: 49 · 2019: 35 · 2018: 33 · 2017: 54 · 2016: 71 · 2015: 79 · 2014: 88 · 2013: 130 · 2012: 117
- FWCI
- 92.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- SERVAL (Université de Lausanne) (acceptedVersion, other-oa)
- IRIS (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion)
- UEA Digital Repository (University of East Anglia) (submittedVersion)
- UNC Libraries
- Funders
- American Diabetes Association
- GlaxoSmithKline
- Wellcome Trust (077016, 079557, 068545, 084713, 090532, 076113)
- Cancer Research UK
- National Institute for Health and Care Research (DHCS/07/07/008)
- British Heart Foundation
- Diabetes UK
- European Commission
- Academy of Finland
- National Institutes of Health
- Novartis Institutes for BioMedical Research
- Medical Research Council (MC_qA137934)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK072193, F32DK079466, K23DK080145, P30DK040561)
- 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 › Genetics and Physical Performance
- Keywords
- melanocortin-4 receptor, obesity, body mass index, fat mass, childhood-onset obesity, monogenic obesity, common genetic variants, rs17782313, FTO, obesity risk
- MeSH terms
- Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Adolescent, Adult, Aged, Alleles, Body Weight, Child, Chromosomes, Human, Pair 18, Cross-Sectional Studies, Female, Humans, Male, Middle Aged, Obesity, Proteins, Genetic Variation, Meta-Analysis as Topic, Cohort Studies, Linkage Disequilibrium, Genome, Human, Body Mass Index, Case-Control Studies, Randomized Controlled Trials as Topic, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Receptor, Melanocortin, Type 4, Adiposity
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