Objective: The growth hormone (GH) receptor (GHR) exon 3 deleted/full-length (d3/fl) polymorphism has been suggested to affect GH sensitivity. The conventional genotyping method used for this polymorphism (multiplex PCR with fragment detection by gel electrophoresis) is laborious and requires large amount of DNA template. This has restricted analysis of this polymorphism to small cohorts. Our aim was to evaluate the accuracy of using a tagging single nucleotide polymorphism (tagSNP) as a marker for the d3/fl polymorphism.
Design: The d3/fl polymorphism was analyzed using TaqMan SNP genotyping of the tagSNP rs6873545 in 183 patients with adult GH deficiency (GHD). The results were compared to d3/fl genotypes determined by the conventional method.
Results: Genotyping success rate for the tagSNP was 100%. Frequency of the d3-allele was 24.0% (d3/d3 7.7%, d3/fl 32.2% and fl/fl 60.1%) and the results from the two different methods were identical. Moreover, three samples previously undetermined when genotyped using the conventional method were successfully analyzed using the tagSNP.
Conclusion: The GHR d3/fl polymorphism can be studied by TaqMan SNP genotyping. Use of the tagSNP facilitates investigations of the effects of the d3/fl polymorphism in large cohorts.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ghir.2010.02.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Growth hormone receptor (GHR) gene polymorphism and scoliosis in Prader-Willi syndrome.
Growth Horm IGF Res
April 2018
Departments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, United States.
Objective: A growth hormone receptor (GHR) gene polymorphism impacts sensitivity to endogenous and exogenous growth hormone (GH) to moderate growth and development. Increased sensitivity may accelerate spinal growth and contribute to scoliosis, particularly in GH-deficient and treated populations such as Prader-Willi syndrome (PWS). Therefore, we examined the relationship between GHR genotype and scoliosis (case and control) in PWS cohorts.
View Article and Find Full Text PDFSerum leptin levels and GHR-d3/fl gene polymorphism in acromegalic patients with thyroid nodules.
Adv Clin Exp Med
September 2017
Department of Endocrinology and Metabolism, Pamukkale University, Denizli, Turkey.
Background: Acromegaly is a rare and serious syndrome that is commonly associated with pituitary neoplasms. Thyroid multinodular disease is a common finding in acromegaly. Leptin is a polypeptide hormone, and studies have shown that it can increase cell proliferation and inhibit apoptosis.
View Article and Find Full Text PDFThe exon3-deleted growth hormone receptor gene polymorphism (d3-GHR) is associated with insulin and spontaneous growth in short SGA children (NESGAS).
Growth Horm IGF Res
August 2017
Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Denmark; International Center for Research and Research Training Centre in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Denmark.
Objective: The effect of a common polymorphism in the Growth Hormone (GH) receptor (d3-GHR) gene on growth, metabolism and body composition was examined in short children born small for gestational age (SGA) on GH treatment.
Design: In 96 prepubertal, short SGA children treated with high-dose GH (67μg/kg/day) in the NESGAS study, insulin sensitivity (IS), insulin secretion and disposition index (DI) were determined during the first year of treatment. Body composition was analysed by DXA.
The growth hormone receptor exon 3-deleted/full-length polymorphism and response to growth hormone therapy in prepubertal idiopathic short children.
Growth Horm IGF Res
June 2015
Department of Physiology/Endocrinology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Objective: The primary aim of the study was to evaluate d3-GHR as a possible cause of increased GH sensitivity in children with delayed infancy-childhood transition (DICT). The secondary aim was to investigate the impact of the GHR exon 3 deleted/full-length (d3/fl) polymorphism on GH treatment response in prepubertal children classified as having idiopathic short stature (ISS).
Design: Study subjects included 167 prepubescent longitudinally followed children classified as having ISS.
Association between the Growth Hormone Receptor Exon 3 Polymorphism and Metabolic Factors in Korean Patients with Acromegaly.
Endocrinol Metab (Seoul)
September 2015
Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
Background: This study investigated the association between the frequency of growth hormone receptor (GHR) exon 3 polymorphism (exon 3 deletion; d3-GHR) and metabolic factors in patients with acromegaly in Korea.
Methods: DNA was extracted from the peripheral blood of 30 unrelated patients with acromegaly. GHR genotypes were evaluated by polymerase chain reaction and correlated with demographic data and laboratory parameters.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!