Dataset Information

Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature.

ABSTRACT:

Objective

A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy.

Materials and methods

Children with idiopathic isolated growth hormone deficiency (n = 39) and with idiopathic short stature (n = 10) and 50 control subjects were evaluated for anthropometric parameters, annual growth velocity, and annual height gain. Growth hormone receptor gene polymorphisms were analyzed via multiplex polymerase chain reaction; growth hormone 1 gene polymorphism was analyzed via polymerase chain reaction and single-strand conformation polymorphism techniques.

Results

The frequency of genotypes carrying the "A" allele was not significantly higher in the idiopathic isolated growth hormone deficiency group than in the idiopathic short stature and control groups (P = .03 for each). The exon 3 deleted variant genotype was significantly lower in the idiopathic short stature group compared to the control group (P = .01). There was no effect of exon 3 deleted variant, on response to the first-year growth hormone therapy.

Conclusion

In Turkish population, no correlation was found between the "A" allele of GH1IVS4+90A>T polymorphism and idiopathic isolated growth hormone deficiency and short stature, and a significant negative correlation was found between exon 3 deleted variant and idiopathic short stature and short stature. Exon 3 deleted variant has no effect on response to growth hormone treatment.

SUBMITTER: Yılmaz Gulec E

PROVIDER: S-EPMC9366161 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

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Publications

Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature.

Yılmaz Güleç Elif E Ercan Oya O Adal Servet Erdal SE Buyru Ayşe Nur AN Yıldız Metin M Deviren Ayhan A

Turkish archives of pediatrics 20220301 2

<h4>Objective</h4>A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on respon ...[more]

PMID: 35383010

Similar Datasets

Project description:Background and objectiveTo evaluate the clinical and biochemical profile and growth hormone receptor polymorphism of children presenting with short stature to a tertiary care centre. This would thus be directing resources to patients with GH deficiency who would respond best to it.Materials and methodsThis was an observational study on short stature children presenting to a tertiary care hospital over a period of 3 years. All children enrolled underwent extensive baseline work up to investigate for causes of short stature like endocrine causes, malnutrition, chronic diseases, celiac disease, syndromic association, skeletal dysplasia, familial short stature, constitutional short stature and idiopathic short stature. In children with pathological short, serum growth hormone (GH), IGF-1 and IGFBP-3 levels were estimated using two different pharmacological stimuli. GH value of less than 10 mg/L was considered to be GH deficient. Children with GH deficiency were subjected to analysis of the GHD3 exon deletion status. For the genotyping of GHR exon 3 locus, the frequency of GHR transcript variants with retention (GHRfl) or exclusion (GHRd3) of exon 3 was tested by the multiplex PCR assay. This was performed with primers G1, G2, and G3 with a well-defined protocol.ResultsA total of 473 children with a median age of 3.65 years (range, 2-18 years) were enrolled. Twenty three percent of the children each were diagnosed as growth hormone deficient and idiopathic short stature. Celiac disease also contributed significantly in 18% of cases. The other causes seen were skeletal dysplasia (7%), syndromic (12%) and malnutrition (2%). Amongst children with endocrine disorders, 40% children had hypothyroidism, panhypopituitarism was seen in 10% children and 50% had Laron’s syndrome. In children with chronic disorders, 72% were diagnosed with thalassemia, 21% with chronic kidney disease and one child had renal tubular acidosis. Constitutional and familial short statures were seen in 6% and 2% children respectively. Amongst patients with GHD, 60.7% had wild type (GHRfl/fl), 19.2% were heterozygous (GHRfl/GHRd3) and 20.1% were homozygous (GHRd3/d3), whereas for idiopathic short stature they were 67.5%, 14.5% and 18% respectively.ConclusionsThe diagnosis could be attained in 85% of cases. Growth hormone deficiency and celiac disease contribute significantly even though majority is normal variants. Also, genotyping done would help in prediction of response to recombinant GH therapy in a resource constraint resulting in appropriation of finances which could be utilized for a higher priority area.

Dataset Information

Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature.

Objective

Materials and methods

Results

Conclusion

Publications

Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature.

Similar Datasets

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