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      Association of the GHRd3 polymorphism with adult height and type 2 diabetes in a Saudi Arabian population from Jazan Province: A case-control study

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          Abstract

          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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          Most cited references30

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          The Growth Hormone Receptor: Mechanism of Receptor Activation, Cell Signaling, and Physiological Aspects

          Farhad Dehkhoda, Christine Lee, Johan Medina … (2018)
          The growth hormone receptor (GHR), although most well known for regulating growth, has many other important biological functions including regulating metabolism and controlling physiological processes related to the hepatobiliary, cardiovascular, renal, gastrointestinal, and reproductive systems. In addition, growth hormone signaling is an important regulator of aging and plays a significant role in cancer development. Growth hormone activates the Janus kinase (JAK)–signal transducer and activator of transcription (STAT) signaling pathway, and recent studies have provided a new understanding of the mechanism of JAK2 activation by growth hormone binding to its receptor. JAK2 activation is required for growth hormone-mediated activation of STAT1, STAT3, and STAT5, and the negative regulation of JAK–STAT signaling comprises an important step in the control of this signaling pathway. The GHR also activates the Src family kinase signaling pathway independent of JAK2. This review covers the molecular mechanisms of GHR activation and signal transduction as well as the physiological consequences of growth hormone signaling.
          Article 0 comments Cited 85 times – based on 0 reviews     Review now
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            A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone.

            Christine Dos Santos, Laurent Essioux, Cécile Teinturier … (2004)
            Growth hormone is used to increase height in short children who are not deficient in growth hormone, but its efficacy varies largely across individuals. The genetic factors responsible for this variation are entirely unknown. In two cohorts of short children treated with growth hormone, we found that an isoform of the growth hormone receptor gene that lacks exon 3 (d3-GHR) was associated with 1.7 to 2 times more growth acceleration induced by growth hormone than the full-length isoform (P < 0.0001). In transfection experiments, the transduction of growth hormone signaling through d3-GHR homo- or heterodimers was approximately 30% higher than through full-length GHR homodimers (P < 0.0001). One-half of Europeans are hetero- or homozygous with respect to the allele encoding the d3-GHR isoform, which is dominant over the full-length isoform. These observations suggest that the polymorphism in exon 3 of GHR is important in growth hormone pharmacogenetics.
            Article 0 comments Cited 64 times – based on 0 reviews     Review now
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              Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution.

              J Pantel, K Machinis, M Sobrier … (2000)
              In humans, growth hormone receptor (GHR) transcripts exist in two isoforms differing by the retention (GHRfl) or exclusion (GHRd3) of exon 3, whereas in mice GHRfl is solely expressed. This species-specific expression pattern is believed to result from an alternative splice event that, on the basis of conflicting data obtained in humans, has been considered to be tissue-, developmentally, and/or individual-specific. To decipher the molecular basis of this unusual trait, we isolated a 6.8-kilobase fragment spanning exon 3 from individuals expressing GHRfl. Sequence analysis revealed the existence of two 99% identical retroelements flanking this exon. Unexpectedly, individuals expressing GHRd3 displayed a 2.7-kilobase deletion involving exon 3, which most likely results from an ancestral homologous recombination between the two retroelements. The lineage of these retroelements during primate evolution revealed the species specificity of the GHRd3 allele. These findings led us to propose a model underlying the existence of the sole GHRfl allele in most species. Such a retrovirus-mediated alternative splice mimicry, which clears up several as yet unexplained phenomena (i.e. the above-mentioned expression data, the Mendelian inheritance of GHR expression patterns, and the deletion of nonconsecutive exons in growth hormone resistant patients), represents a novel physiological mechanism accounting for protein diversity between and within species.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Pak J Med Sci
                Journal ID (iso-abbrev): Pak J Med Sci
                Title: Pakistan Journal of Medical Sciences
                Publisher: Professional Medical Publications (Pakistan )
                ISSN (Print): 1682-024X
                ISSN (Electronic): 1681-715X
                Publication date (Print): Jan-Feb 2024
                Volume: 40
                Issue: 3Part-II
                Pages: 308-312
                Affiliations
                [1 ]Reham Ghazi Al-hakami, BSc. Department of Medical Laboratory Technology, College of Applied Medical Sciences, Medical Research Center, Jazan University, Jazan, Saudi Arabia
                [2 ]Alaa Yahia Mashraqi, BSc. Department of Medical Laboratory Technology, College of Applied Medical Sciences, Medical Research Center, Jazan University, Jazan, Saudi Arabia
                [3 ]Rola Ali Atiah, BSc. Department of Medical Laboratory Technology, College of Applied Medical Sciences, Medical Research Center, Jazan University, Jazan, Saudi Arabia
                [4 ]Yahia Ali Kaabi, PhD. Department of Medical Laboratory Technology, College of Applied Medical Sciences, Medical Research Center, Jazan University, Jazan, Saudi Arabia
                Author notes
                Correspondence: Dr. Yahia Ali Kaabi, Department of Medical Laboratory Technology, College of Applied Medical Sciences, Medical Research Center, Jazan University, Jazan, P.O. Box 46852, Saudi Arabia. Email: ykaabi@ 123456jazanu.edu.sa
                Article
                Publisher ID: PJMS-40-308
                DOI: 10.12669/pjms.40.3.7686
                PMC ID: 10862461
                PubMed ID: 38356830
                SO-VID: 703f675a-0faf-4fa6-8b94-613b5a9de424
                Copyright © Copyright: © Pakistan Journal of Medical Sciences
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 08 February 2023
                Date revision received : 16 March 2023
                Date revision received : 14 October 2023
                Date accepted : 18 November 2023
                Categories
                Subject: Original Article

                Keywords: growth hormone receptor (ghr),ghrd3 polymorphisms,adult height,type-2 diabetes mellitus,genotyping
                Data availability:
                Keywords: growth hormone receptor (ghr), ghrd3 polymorphisms, adult height, type-2 diabetes mellitus, genotyping

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