The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults

Martins, Clarissa Silva; Fernandes-Rosa, Fábio Luiz; Espineira, Aniette R.; Souza, Roberto Martins de; Castro, Margaret de; Barbieri, Marco Antônio; Bettiol, Heloísa; Jorge, Alexander A L; Antonini, Sonir Roberto Rauber

doi:10.1016/j.ghir.2014.04.005

Cited by 13 publications

(16 citation statements)

References 43 publications

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“…Data from military conscripts and personnel have allowed reconstructing long-term trends in height in some European countries and the USA, albeit largely for men, and treating it as a 'mirror' to social and environmental conditions that affect nutrition, health and economic prosperity, in each generation and across generations ( Tanner, 1987 ; Fogel, 2004 ; Komlos, 2009 ; Martins et al, 2014 ; Martorell, 1995 ). Our results on the large gains in continental European countries, and that they have overtaken English-speaking countries like the USA, are consistent with these earlier studies although these earlier analyses covered fewer countries in Eastern and Southern Europe, and used some self-reported data with simple adjustments that cannot fully correct for their bias ( Hatton and Bray, 2010 ; Facchini and Gualdi-Russo, 1982 ; Baten and Blum, 2012 ).…”

Section: Discussionmentioning

confidence: 99%

A century of trends in adult human height

Bentham¹,

Cesare²,

Stevens³

et al. 2016

eLife

420

179

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Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3–19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8–144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.DOI: http://dx.doi.org/10.7554/eLife.13410.001

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Section: Discussionmentioning

confidence: 99%

A century of trends in adult human height

Bentham¹,

Cesare²,

Stevens³

et al. 2016

eLife

420

179

View full text Add to dashboard Cite

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“…Consistent with several reports, no correlations were observed between the GHR-d3 polymorphism and weight, height, or BMI in this study based on the healthy adult population. 16 , 21 , 30 , 31 Nevertheless, some studies have revealed an association between the GHR-d3 polymorphism and reduced BMI under some conditions. For example, a Chinese study conducted on obese children reported significant correlations of GHR d3/d3 with low BMI, low insulin resistance, and low total cholesterol.…”

Section: Discussionmentioning

confidence: 99%

Frequency of the exon 3-deleted/full-length growth hormone receptor polymorphism in Saudi Arabian population

Kaabi

2017

SMJ

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Objectives:To investigate the frequency of the growth hormone receptor (GHR)-d3 polymorphism in a random sample of Saudi Arabian population from Jazan province, and test the effects of the polymorphism on some anthropometric factors.Methods:This cross-sectional population-based study was conducted during the period from January to April 2017 at the College of Applied Medical Sciences, Jazan University, Southwestern Saudi Arabia. A total of 230 healthy adult male and female volunteers were randomly recruited. Genomic DNA was extracted from the whole blood, and the GHR exon 3 locus was genotyped using multiplex polymerase chain reaction.Results:The distributions of the GHR genotypes were as follows: fl/fl (39.1%), fl/d3 (44.8%), and d3/d3 (16.1%). No statistically significant differences were found between fl/fl, fl/d3, or d3/d3 GHR genotypes in terms of weight (p=0.90), height (p=0.12), or body mass index (BMI) (p=0.83) values.Conclusion:No correlations were found between the GHR-d3 polymorphism and weight, height, or BMI.

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“…In 2003, Pantel et al (18) concluded that a single copy of either the d3-GHR or the fl-GHR was sufficient for normal growth, and this was later confirmed in a large study by Lettre et al (19), where the d3-GHR polymorphism was shown to have no influence in the adult height variation. A more recent Brazilian study found that the d3-GHR genotype was negatively associated with birth size, but it was not associated with adult height or weight, plasma IGF-I, metabolic phenotype or any marker of increased cardiovascular risk in adults (20).…”

Section: Functional Consequences Of the Ghr Exon 3 Deletion (D3-ghr)mentioning

confidence: 95%

MECHANISMS IN ENDOCRINOLOGY: Clinical and pharmacogenetic aspects of the growth hormone receptor polymorphism

Boguszewski

Barbosa

Svensson

et al. 2017

European Journal of Endocrinology

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Pharmacogenetics aims to maximize the beneficial effects of a medical therapy by identifying genetic finger prints from responders and non-responders and, thereby improving safety and efficacy profile of the drug. Most subjects who are deficient in growth hormone (GHD) are candidates for recombinant human GH (rhGH) therapy. To date, it is well established that even after adjustments for several clinical variables, such as age, gender, body composition and the age at onset of the GHD, response to rhGH treatment is highly variable among individuals, part of which is believed to be due to genetic factors within the GH system. As the first genetic variant to potentially influence the individual response to rhGH therapy in children with growth disorders, polymorphism in the GH receptor (GHR) has attracted a great interest as a target for pharmacogenetics. Studies have been conducted to compare the functional and molecular effects of the full-length GHR (fl-GHR) isoform with the exon 3 deleted (d3-GHR) isoform in children and adults treated with rhGH therapy. Additionally, the impact of the GHR polymorphism has been investigated in relation to the clinical status and response to medical treatment in acromegaly, especially to the GHR antagonist drug pegvisomant. We have performed a narrative review of the studies performed to date on the association of GHR polymorphism with rhGH response in children and adults, and its potential influence in the medical management of acromegaly. In addition, data from studies on the general population and in other chronic diseases examining a role of this genetic variant in the regulation of growth and metabolism are summarized. The growth hormone receptor (GHR)Growth hormone (GH) exerts its biological effects by binding to the GH receptor (GHR). The GHR protein is positioned at the cell membrane of almost every cell in the human body and contains a 246 amino acids long extracellular (GH-binding) domain, a transmembrane domain and a 350 amino acids long intracellular (cytoplasmic) domain. In total, the GHR protein is composed of 638 residues (1). Binding of GH to the GHR induces a series of subtle conformational events within a receptor homodimer, rather than a simple receptor dimerization, promoting a realignment of the two receptors both by relative rotation and by closer apposition just above the cell membrane (2). The parallel receptor transmembrane domains are converted into a rotated crossover orientation and the lower parts of the transmembrane helices are separated. GHR activation

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The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults

Cited by 13 publications

References 43 publications

A century of trends in adult human height

A century of trends in adult human height

Frequency of the exon 3-deleted/full-length growth hormone receptor polymorphism in Saudi Arabian population

MECHANISMS IN ENDOCRINOLOGY: Clinical and pharmacogenetic aspects of the growth hormone receptor polymorphism

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