Exon 3-deleted and full-length growth hormone receptor polymorphism frequencies in an Iranian population

Research in Pharmaceutical Sciences

Volumn 9, Issue 6, 2014, Pages 489-494

  Palizban, A A ^a   Radmansorry, M ^a   Bozorgzad, M ^b  

^a ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

D3GHR; D3GHR flGHR; GH IGF I axis; Polymorphism; Population

Indexed keywords

DNA; GROWTH FACTOR; GROWTH HORMONE; GROWTH HORMONE RECEPTOR;

ADULT; ARTICLE; CONTROLLED STUDY; ETHNIC GROUP; EXON; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; IRANIAN (CITIZEN); MALE;

EID: 84907451518     PISSN: 17355362     EISSN: 17359414     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Leung DW, Spencer SA, Cachianes G, Hammonds RG, Collins C, Henzel W, et al. Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature. 1987;330:537-543.
2. Spencer SA, Hammonds RG, Henzel WJ, Rodriguez H, Waters MJ, Wood WI. Rabbit liver growth hormone receptor and serum binding protein: purification, characterization, and sequence. J Biol Chem. 1988;263:7862-7867.
3. Baumann G, Stolar MW, Amburn K, Barsano CP, DeVries BC. A specific growth hormone-binding protein in human plasma: initial characterization. J Clin Endocrinol Metab. 1986;62:134-141.
4. Herington AC, Ymer SI, Stevenson JL. Identification and characterization of specific binding proteins for growth hormone in normal human sera. J Clin Invest. 1986;77:1817-1823.
5. Baumann G. Growth hormone binding protein. The soluble growth hormone receptor. Minerva Endocrinol. 2002;27:265-276.
6. Seidel B, Glasow A, Schutt M, Kiess W, Wu Z, Strasburger C, et al. Association between the GH receptor/exon 3 genotype and the level of exon 3-positive GH-binding protein in human serum. Eur J Endocrinol. 2003;148:317-324.
7. Richard AJ, Stephens JM. Emerging roles of JAK- STAT signaling pathways in adipocytes. Trends Endocrin Met. 2011;22:325-332.
8. Palizban AA, Sadeghi-Aliabadi H, Abdollahpour F. Effect of cerium lanthanide on Hela and MCF-7 cancer cell growth in the presence of transferrin. Res Pharm Sci. 2011;5:119-125.
9. Petkovic V, Miletta MC, Eblé A, Iliev DI, Binder G, Flück CE, et al. Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion. Endocrinology. 2013;154:4215-4225.
10. Palizban A, Nikpour M, Salehi R, Maracy MR. Association of a common variant in TCF7L2 gene with type 2 diabetes mellitus in a Persian population. Clin Exp Med. 2012 12:115-9.
11. Urbanek M, MacLeod J, Cooke N, Liebhaber S. Expression of a human growth hormone (hGH) receptor isoform is predicted by tissue-specific alternative splicing of exon 3 of the hGH receptor gene transcript. Mol Endocrinol. 1992;6:279-287.
12. Montefusco L, Filopanti M, Ronchi CL, Olgiati L, La?Porta C, Losa M, et al. d3 growth hormone receptor polymorphism in acromegaly: effects on metabolic phenotype. Clin Endocrinol. 2010;72:661-667.
13. Kratzsch J, Wu Z, Kiess W, Dehmel B, Bosse-Henck A, Reuter W, et al. The exon 3-retaining and the exon 3-deleted forms of the growth hormonebinding protein (GHBP) in human serum are regulated differently. Clin Endocrinol. 2001;54:61-68.
14. Urbanek M, Russell JE, Cooke NE, Liebhaber SA. Functional characterization of the alternatively spliced, placental human growth hormone receptor. J Biol Chem. 1993;268:19025-19032.
15. Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougnéres P. A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat Genet. 2004;36:720-724.
16. Gu H, Efendic S, Brismar K. Lack of an association between GHR exon 3 polymorphism and diabetic nephropathy in the genetics of kidneys in diabetes (GoKinD) population. Diabetologia. 2008;51:2333-2334.
17. Mercado M, González B, Sandoval C, Esquenazi Y, Mier F, Vargas G, et al. Clinical and biochemical impact of the d3 growth hormone receptor genotype in acromegaly. J Clin Endocr Metab. 2008;93:3411-5.
18. Bianchi A, Giustina A, Cimino V, Pola R, Angelini F, Pontecorvi A, et al. Influence of growth hormone receptor d3 and full-length isoforms on biochemical treatment outcomes in acromegaly. J Clin Endocr Metab. 2009;94:2015-2022.
19. Kamenicky P, Dos Santos C, Espinosa C, Salenave S, Galland F, Le Bouc Y, et al. d3GH receptor polymorphism is not associated with IGF1 levels in untreated acromegaly. Eur J Endocrinol. 2009;161:231-235.
20. Turgut S, Akn F, Ayada C, Topsakal A, Yerlikaya E, Turgut G. The growth hormone receptor polymorphism in patients with acromegaly: relationship to BMI and glucose metabolism. Pituitary. 2012;15:374-379.
21. Binder G, Trebar B, Baur F, Schweizer R, Ranke MB. Homozygosity of the d3?growth hormone receptor polymorphism is associated with a high total effect of GH on growth and a low BMI in girls with Turner syndrome. Clin Endocrinol. 2008;68:567-572.
22. Audi L, Carrascosa A, Esteban C, Fernandez-Cancio M, Andaluz P, Yeste D, et al. The exon 3-deleted/full-length growth hormone receptor polymorphism does not influence the effect of puberty or growth hormone therapy on glucose homeostasis in short non-growth hormone-deficient small-for-gestational-Age children: results from a two-year controlled prospective study. J Clin Endocr Metab. 2008;93:2709-2715.
23. J Pantel, K Machinis, ML Sobrier, P Duquesnoy, M Goossens, S Amselem. Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J Biol Chem. 2000;275:18664-18669.
24. Bas F, Darendeliler F, Aycan Z, Cetinkaya E, Berberoglu M, S?klar Z, et al. The exon 3-deleted/full-length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and turner syndrome: a multicenter study. Horm Res Paediatr. 2012;77:85-93.
25. McKay JD, Kaaks R, Johansson M, Biessy C, Wiklund F, Bälter K, et al. Haplotype-based analysis of common variation in the growth hormone receptor gene and cancer risk. Cancer Epidem Biomar. 2007;16:169-173.
26. Blum WF, Machinis K, Shavrikova EP, Keller A, Stobbe H, Pfaeffle RW, et al. The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor. J Clin Endocr Metab. 2006;91:4171-4174.
27. presence of the exon 3-minus isoform of the GH receptor. J Clin Endocr Metab. 2006;91:4171-4174.
28. Butler MG, Roberts J, Hayes J, Tan X, Manzardo AM. Growth hormone receptor (GHR) gene polymorphism and Prader-Willi syndrome. Am J Med Genet A. 2013;161A:1647-1653.