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

Kaabi, Yahia A

doi:10.15537/smj.2017.11.21109

Cited by 3 publications

(7 citation statements)

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“…The distribution of GHRd3 polymorphisms in Saudi Arabia has been published elsewhere. 21 In this study, we investigated the association between GHRd3 polymorphisms and adult height or T2DM in the Saudi Arabian population from the Jazan area. To our knowledge, this is the first study to explore this topic in this region.…”

Section: Discussionmentioning

confidence: 99%

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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

Al-hakami,

Mashraqi,

Shannaq

et al. 2023

Pak J Med Sci

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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. doi: https://doi.org/10.12669/pjms.40.3.7686 How to cite this: Al-hakami RG, Mashraqi AY, Shannaq RAA, Kaabi YA. Association of the GHRd3 polymorphism with adult height and type 2 diabetes in a Saudi Arabian population from Jazan Province: A case-control study. Pak J Med Sci. 2024;40(3):308-312. doi: https://doi.org/10.12669/pjms.40.3.7686 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.

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Section: Discussionmentioning

confidence: 99%

“…The full-length allele (fl) and exon 3-deleted allele (d3) of GHR were genotyped by multiplex polymerase chain reaction (PCR) as described previously. 21 …”

Section: Methodsmentioning

confidence: 99%

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

Al-hakami,

Mashraqi,

Shannaq

et al. 2023

Pak J Med Sci

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“…Yet, in a Saudi population investigation of 230 healthy adults, the GHR genotypes were distributed as follows: 39.1% for fl/fl, 44.8% for fl/d3, and 16.1% for d3/d3. They found no discernible differences between the GHR genotypes in height, weight, or body mass index [63]. Further, in healthy Turkish adults (n=477), 35% fl/fl, 39% fl/d3, and 26% d3/d3, the three GHR genotype groups did not differ in terms of height SDS (standard deviation score) or BMI SDS [64].…”

Section: Effects Of the Flghr And D3ghr Isoforms In Healthy Peoplementioning

confidence: 91%

The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism - a Favorable Backdoor Mechanism for the GHR Function

Falah,

Sharvit,

Atzmon

2023

Preprint

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Growth hormone (GH) is a peptide hormone that plays a crucial role in controlling growth, development, and lifespan. Molecular regulation of GH is accomplished via the GH receptor (GHR) gene, which is the main factor influencing human development and is essential to optimal functioning of the GH/IGF-I axis. Two GHR isoforms have been studied, according to the presence (flGHR) or absence (d3GHR) of exon 3. The d3GHR variant, which has recently been related to longevity, is associated with enhanced signal transduction and higher receptor function. Many of these studies indicated that the growth response to GH treatment may be affected. Individuals carrying the d3GHR isoform have higher receptor activity, improved signal transduction, and alterations in the treatment response and efficacy compared with those carrying the WT isoform. Further, studies performed in patients with acromegaly, Prader-Willi syndrome, Turner syndrome, small for gestational age (SGA), and growth hormone deficiency (GHD) suggested that the d3GHR variant may have an impact on the relationship between GH and IGF-I levels, height, weight, BMI, and other variables. Other research, however, revealed inconsistent results, which might have been caused by confounding factors, including limited sample sizes and different experimental methods. In this review, we lay out the complexity of the GHR isoforms and provide an overview of the major pharmacogenetic research conducted on this ongoing and unresolved subject.

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“…Yet, in a Saudi population investigation of 230 healthy adults the GHR genotypes were distributed as follows: 39.1% for fl/fl, 44.8% for fl/d3, and 16.1% for d3/d3. They found no discernible differences between the GHR genotypes in height, weight, or body mass index [ 68 ]. Further, in healthy Turkish adults (n = 477) 35% fl/fl, 39% fl/d3, and 26% d3/d3; the three GHR genotype groups did not differ in terms of height SDS (standard deviation score) or BMI SDS [ 69 ].…”

Section: Effects Of the Flghr And D3ghr Isoforms In Healthy Peoplementioning

confidence: 99%

“…In healthy individuals, exon 3 deletion is associated with greater height, a longer life-span, and higher GH sensitivity [ 13 ]. However, some studies did not identify any significant differences in height, weight, or other characteristics among the GHR genotypes [ 66 , 68 ].…”

Section: Conclusion and Future Perspectivesmentioning

confidence: 99%

The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism—A Favorable Backdoor Mechanism for the GHR Function

Falah,

Sharvit,

Atzmon

2023

IJMS

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Growth hormone (GH) is a peptide hormone that plays a crucial role in controlling growth, development, and lifespan. Molecular regulation of GH is accomplished via the GH receptor (GHR), which is the main factor influencing human development and is essential to optimal functioning of the GH/IGF-I axis. Two GHR isoforms have been studied, according to the presence (flGHR) or absence (d3GHR) of exon 3. The d3GHR isoform, which lacks exon 3 has recently been related to longevity; individuals carrying this isoform have higher receptor activity, improved signal transduction, and alterations in the treatment response and efficacy compared with those carrying the wild type (WT) isoform (flGHR). Further, studies performed in patients with acromegaly, Prader–Willi syndrome, Turner syndrome, small for gestational age (SGA), and growth hormone deficiency (GHD) suggested that the d3GHR isoform may have an impact on the relationship between GH and IGF-I levels, height, weight, BMI, and other variables. Other research, however, revealed inconsistent results, which might have been caused by confounding factors, including limited sample sizes and different experimental methods. In this review, we lay out the complexity of the GHR isoforms and provide an overview of the major pharmacogenetic research conducted on this ongoing and unresolved subject.

show abstract

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

Cited by 3 publications

References 30 publications

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

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

The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism - a Favorable Backdoor Mechanism for the GHR Function

The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism—A Favorable Backdoor Mechanism for the GHR Function

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