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Cited by 164Genetics and Physical PerformanceGenetic Associations and EpidemiologyEstrogen and related hormone effects

The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a beneficial body composition and muscle strength in young adults

van Rossum, Elisabeth F. C., Voorhoeve, Paul G., te Velde, Saskia J., Koper, Jan W., Delemarre-van de Waal, Henriette A., Kemper, Han C. G., Lamberts, Steven W. J.·2004·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2003-031422
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Abstract

Glucocorticoids play an important role in determining body composition. A polymorphism of the glucocorticoid receptor gene (in codons 22 and 23) has previously been found to be associated with relative glucocorticoid resistance, low cholesterol levels, and increased insulin sensitivity. In this study, we investigated whether this ER22/23EK polymorphism is associated with differences in body composition and muscle strength. We studied a cohort of 350 subjects who were followed from age 13 until 36 yr. We compared noncarriers and carriers of the ER22/23EK variant in anthropometric parameters, body composition, and muscle strength, as measured by arm pull tests and high jump from standing. We identified 27 (8.0%) heterozygous ER22/23EK carriers. In males at 36 yr of age, we found that ER22/23EK carriers were taller, had more lean body mass, greater thigh circumference, and more muscle strength in arms and legs. We observed no differences in body mass index or fat mass. In females, waist and hip circumferences tended to be smaller in ER22/23EK carriers at the age of 36 yr, but no differences in body mass index were found. Thus, the ER22/23EK polymorphism is associated with a sex-specific, beneficial body composition at young-adult age, as well as greater muscle strength in males.

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  • Interindividual sensitivity to glucocorticoids is influenced, in part, by polymorphisms in the glucocorticoid receptor gene, which have been associated with altered receptor function and differential metabolic responses to cortisol.

    “This variability is influenced, in part, by polymorphisms in the glucocorticoid receptor gene, which have been associated with altered receptor function and differential metabolic responses to cortisol (102-108).”

    From Measuring cortisol in Cushing syndrome: diagnosis, monitoring, and cortisol circadian rhythm improvement. (2026) · cites this paper as [108]

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Authors
van Rossum, E. F. C., Voorhoeve, P. G., te Velde, S. J., Koper, J. W., Delemarre-van de Waal, H. A., Kemper, H. C. G., & Lamberts, S. W. J.
Affiliations
  • Erasmus MC (NL)
  • Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2004-08
Volume
89
Issue
8
Pages
4004-4009
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2003-031422
OpenAlex
W2094826807
Cited by
164
References
0
Citations by year
2026: 2 · 2025: 2 · 2024: 3 · 2023: 9 · 2022: 1 · 2021: 5 · 2020: 1 · 2019: 2 · 2018: 6 · 2017: 2 · 2016: 10 · 2015: 5 · 2014: 13 · 2013: 8 · 2012: 7
FWCI
6.78
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
Funders
Erasmus Medisch Centrum
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Estrogen and related hormone effects
Keywords
glucocorticoid receptor gene, ER22/23EK polymorphism, body composition, muscle strength, lean body mass, sex differences, young adults, high jump, anthropometry, genetic polymorphism
MeSH terms
Adolescent, Adult, Anthropometry, Arginine, Body Composition, Female, Genotype, Heterozygote, Humans, Lysine, Male, Motor Activity, Polymorphism, Genetic, Puberty, Receptors, Glucocorticoid, Muscle, Skeletal, Glutamic Acid

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