Rapid and high throughput genotyping of the growth hormone receptor exon 3 deleted/full-length polymorphism using a tagSNP

Glad, Camilla A M; Johannsson, Gudmundur; Carlsson, Lena; Svensson, Per‐Arne

doi:10.1016/j.ghir.2010.02.004

Cited by 16 publications

(14 citation statements)

References 30 publications

(34 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Here, we extend the finding of Glad et al [40] to determine the sensitivity and reproducibility of different GHRd3 genotyping methods (standard versus quantitative PCR) in archival snap frozen, formalin fixed, or paraffin embedded human placental tissue, placental stem cells, blood and serum samples.…”

Section: Introductionmentioning

confidence: 71%

See 1 more Smart Citation

Rapid method for growth hormone receptor exon 3 delete (GHRd3) SNP genotyping from archival human placental samples

et al. 2015

View full text Add to dashboard Cite

Analysis of archival samples from cohorts of pregnant women may be key to discovering prognosticators of stillbirth and pregnancy/perinatal complications. Growth hormone (GH) and its receptor (GHR) are pivotal in feto-placental development and pregnancy maintenance. We report a rapid, optimized method for genotyping the GHR full-length versus exon 3-deleted isoform (GHRd3). TaqMan single nucleotide polymorphism (SNP) genotyping proved superior to standard multiplex polymerase chain reaction (PCR) in allele detection and GHR genotyping from archived samples, including those with poor genomic deoxyribonucleic acid quality/quantity such as formalin fixed, paraffin embedded, blood, and serum. Furthermore, this assay is suitable for high through put 96 or 384-well plate quantitative PCR machines with automated genotype calling software. The TaqMan genotyping assay can increase the data obtained from precious archival human samples.

show abstract

Section: Introductionmentioning

confidence: 71%

“…The Applied Biosystems TaqMan SNP assay corresponding to the human tagSNP rs6873545 that detects the GHR full-length or exon 3 deleted regions (assay ID: C__28966089_10, catalog #: 4351379) [40] was purchased from Life Technologies. qPCR setup and cycling conditions are detailed in the Supplementary methods online [40].…”

Section: Taqman Snp Qpcr Genotypingmentioning

confidence: 99%

Rapid method for growth hormone receptor exon 3 delete (GHRd3) SNP genotyping from archival human placental samples

et al. 2015

View full text Add to dashboard Cite

show abstract

“…The circulating levels of GH augment muscle IGF-I protein expression only in the presence of an intact GHR but the absence of a functional GHR does not affect basal levels of muscle IGF-I protein in female mice. In patients with the d3-allele, even treated with a similar mean GH dose, individuals carrying at least one GHR d3-allele reached higher IGF-I levels than those homozygous for the full-length allele (Glad et al 2010). Growth hormone can also affect the expression level of GHR.…”

Section: Discussionmentioning

confidence: 99%

Expression profiles of growth hormone receptor and insulin-like growth factor I in cattle and yak tissues revealed by quantitative real-time PCR

et al. 2013

View full text Add to dashboard Cite

The goals of this study were to compare the mRNA expression profiles of growth hormone recep tor (GHR) and insulin-like growth factor I (IGF-I) in various tissues of cattle and the semi-wild yak (Datong yak) and to find out whether the mRNA levels of the two genes are correlated. The mRNA levels of GHR and IGF-I in heart, lung, liver, spleen, pancreas, kidney, muscle, mammary gland and ovary of cattle and yak were investigated by using quantitative real-time po ly mer ase chain reaction (PCR). The experiments showed that the transcript levels of the two genes were sig nif i cant ly higher in liver (P<0.05) than in the other tissues for both species and that IGF-I levels varied more among tissues (P<0.01) than did GHR levels. The GHR tran script level in pancreas was higher in yak (P<0.05) than in cattle. There was no statistically sig nif i cant difference in IGF-I tran script levels among all the tissues of both bovine groups. Growth hormone receptor and IGF-I transcript levels were positively correlated in mammary gland (P<0.01), lung (P<0.05) and muscle (P<0.05) in yak, negatively correlated in cattle heart (P<0.05) and not correlated in the other tissues. The results indicate that the two genes are reg u lated differently in various tissues under normal physiological conditions in these two bovine species.

show abstract

“…Moreover, many studies have used the conventional multiplex PCR assay for genotyping with the need for an additional round of PCR and an increased risk of over reporting d3/d3 genotypes. To overcome this problem, we suggest an international collaboration where the polymorphism would be easily studied using TaqMan SNP genotyping of the d3/fl tagSNP rs6873545, as described previously (19,42) and further enlightened in Fig. 2, allowing a future extensive metaanalysis comparing the three genotype groups.…”

Section: Ghr Polymorphism In Short Childrenmentioning

confidence: 99%

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

Boguszewski

Barbosa

Svensson

et al. 2017

European Journal of Endocrinology

Self Cite

View full text Add to dashboard Cite

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

show abstract

Rapid and high throughput genotyping of the growth hormone receptor exon 3 deleted/full-length polymorphism using a tagSNP

Cited by 16 publications

References 30 publications

Rapid method for growth hormone receptor exon 3 delete (GHRd3) SNP genotyping from archival human placental samples

Rapid method for growth hormone receptor exon 3 delete (GHRd3) SNP genotyping from archival human placental samples

Expression profiles of growth hormone receptor and insulin-like growth factor I in cattle and yak tissues revealed by quantitative real-time PCR

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

Contact Info

Product

Resources

About