Objectives: This study investigated the association of the GHRd3 polymorphism with height and type-2 diabetes mellitus (T2DM) in Saudi Arabia.
Methods: This case-control study included a total of 284 participants, divided into healthy controls (n = 142) and patients with T2DM (n = 142), recruited from Jazan University Hospital, southwest of Saudi Arabia in the period between January to September 2022. The GHRd3 polymorphism was genotyped using multiplex PCR. The correlation between height and genotypes was analyzed using one-way analysis of variance. The association between GHRd3 polymorphism and T2DM was assessed using logistic regression analysis.
Results: The data showed a significant difference between the means of heights associated with each GHRd3 genotype, flfl, fld3, and d3d3. Logistic regression analysis showed no association between GHRd3 variants and T2DM.
Conclusion: Homozygous GHRd3 polymorphism carriers, d3d3 genotype, were taller than fld3 or flfl carriers in our population. None of the GHRd3 variants were associated with T2DM. Thus, the GHRd3 polymorphism has growth-related actions with a minor contribution to T2DM. However, more studies with a larger sample size are required to confirm these findings.
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| http://dx.doi.org/10.12669/pjms.40.3.7686 | DOI Listing |
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Association of the polymorphism with adult height and type 2 diabetes in a Saudi Arabian population from Jazan Province: A case-control study.
Pak J Med Sci
January 2024
Yahia Ali Kaabi, PhD. Department of Medical Laboratory Technology, College of Applied Medical Sciences, Medical Research Center, Jazan University, Jazan, Saudi Arabia.
Objectives: This study investigated the association of the GHRd3 polymorphism with height and type-2 diabetes mellitus (T2DM) in Saudi Arabia.
Methods: This case-control study included a total of 284 participants, divided into healthy controls (n = 142) and patients with T2DM (n = 142), recruited from Jazan University Hospital, southwest of Saudi Arabia in the period between January to September 2022. The GHRd3 polymorphism was genotyped using multiplex PCR.
Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor.
Sci Adv
September 2021
Department of Biological Sciences, University at Buffalo, Buffalo, NY, USA.
Article Synopsis
- * Evidence suggests GHRd3 was nearly fixed in ancient human and Neanderthal populations but has recently decreased in frequency in East Asia, possibly due to its role in protecting against severe malnutrition.
- * A novel mouse model showed that calorie restriction leads to changes in gene expression linked to GHRd3, impacting weight and sex characteristics, hinting that its allele frequency has evolved in response to resource availability throughout human history.
Growth hormone receptor gene polymorphism. Spontaneous catch up growth in small for gestational age patients.
Medicina (B Aires)
August 2021
Laboratorio de Biología Molecular Diagnóstico, CONICET, Buenos Aires, Argentina. E-mail:
The growth hormone receptor (GHR) mediates the effect of growth hormone (GH) on linear growth and metabolism. In humans, it exists as two isoforms differing by the retention or exclusion of exon 3; a full-length GHR isoform (GHRfl) and the exon 3-deleted isoform (GHRd3). The genotypic frequency of this polymorphism was analyzed in several studies and in different human populations.
View Article and Find Full Text PDFFrequency of the exon 3-deleted/full-length growth hormone receptor polymorphism in Saudi Arabian population.
Saudi Med J
November 2017
Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Kingdom of Saudi Arabia. E-mail.
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.
[GHRd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature].
Rev Peru Med Exp Salud Publica
March 2016
Objectives: To describe the standardization of molecular detection and frequency of a growth hormone receptor gene deleted for exon three (GHRd3) polymorphism in a population of Peruvian children with idiopathic short stature.
Materials And Methods: Peripheral blood samples were used from patients (N=64) who were diagnosed with idiopathic short stature and were treated at the endocrinology unit of the National Institute of Child Health in Peru The amplification of exon 3 was carried out using G1, G2, and G3 primers by optimizing PCR conditions, such as annealing temperature and magnesium concentration.
Results: The specificity of primers was maximized at 67 °C and there were no differences between magnesium concentration tests.
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