The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with turner syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 4, 2012, Pages

  Braz, Adriana F ^a   Costalonga, Everlayny F ^a   Montenegro, Luciana R ^a   Trarbach, Ericka B ^a   Antonini, Sonir R R ^a   Malaquias, Alexsandra C ^a   Ramos, Ester S ^a   Mendonca, Berenice B ^a   Arnhold, Ivo J P ^a   Jorge, Alexander A L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HUMAN GROWTH HORMONE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

ADOLESCENT; ADULT; ARTICLE; BODY HEIGHT; CHILD; CONTROLLED STUDY; EXON; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC EPISTASIS; GENETIC POLYMORPHISM; GENOTYPE; GHR GENE; GROWTH RATE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; IGFBP3 GENE; MAJOR CLINICAL STUDY; OUTCOME ASSESSMENT; PHARMACOGENETICS; PREPUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; TREATMENT DURATION; TREATMENT RESPONSE; TURNER SYNDROME;

ADULT; ALLELES; BODY HEIGHT; BRAZIL; DRUG RESISTANCE; EXONS; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HORMONE REPLACEMENT THERAPY; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RECEPTORS, SOMATOTROPIN; RECOMBINANT PROTEINS; TREATMENT OUTCOME; TURNER SYNDROME;

EID: 84859527174     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-2521     Document Type: Article

References (30)

1. Bondy CA 2007 Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 92:10-25 (Pubitemid 46067503)
2. van Pareren YK, de Muinck Keizer-Schrama SM, Stijnen T, Sas TC, Jansen M, Otten BJ, Hoorweg-Nijman JJ, Vulsma T, Stokvis- Brantsma WH, Rouwé CW, Reeser HM, Gerver WJ, Gosen JJ, Rongen- Westerlaken C, Drop SL 2003 Final height in girls with Turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. J Clin Endocrinol Metab 88:1119-1125
3. Stephure DK 2005 Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab 90:3360-3366 (Pubitemid 41014298)
4. Ranke MB, Lindberg A, Ferrández Longás A, Darendeliler F, Albertsson- Wikland K, Dunger D, Cutfield WS, Tauber M, Wilton P, Wollmann HA, Reiter EO 2007 Major determinants of height development in Turner syndrome (TS) patients treated with GH: analysis of 987 patients from KIGS. Pediatr Res 61:105-110
5. Ross JL, Quigley CA, Cao D, Feuillan P, Kowal K, Chipman JJ, Cutler Jr GB 2011 Growth hormone plus childhood low-dose estrogen in Turner's syndrome. N Engl J Med 364:1230-1242
6. Geffner ME, Dunger DB 2007 Future directions: growth prediction models. Horm Res 68(Suppl 5):51-56
7. Wassenaar MJ, Dekkers OM, Pereira AM, Wit JM, Smit JW, Biermasz NR, Romijn JA 2009 Impact of the exon 3-deleted growth hormone (GH) receptor polymorphism on baseline height and the growth response to recombinant human GH therapy in GH-deficient (GHD) and non-GHD children with short stature: a systematic review and meta-analysis. J Clin Endocrinol Metab 94:3721-3730
8. Binder G, Trebar B, Baur F, Schweizer R, Ranke MB 2008 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 (Oxf) 68:567-572 (Pubitemid 351388712)
9. Alvarez-Nava F, Marcano H, Pardo T, Paoli M, Gunczler P, Soto M, Villaloboss J, Lanes R 2010 GHR and VDR genes do not contribute to the growth hormone (GH) response in GH deficient and Turner syndrome patients. J Pediatr Endocrinol Metab 23:773-782
10. Ko JM, Kim JM, Cheon CK, Kim DH, Lee DY, Cheong WY, Kim EY, Park MJ, Yoo HW 2010 The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. Clin Endocrinol (Oxf) 72:196-202
11. Costalonga EF, Antonini SR, Guerra-Junior G, Mendonca BB, Arnhold IJ, Jorge AA 2009 The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency. J Clin Endocrinol Metab 94:588-595
12. van der Kaay DC, Hendriks AE, Ester WA, Leunissen RW, Willemsen RH, de Kort SW, Paquette JR, Hokken-Koelega AC, Deal CL 2009 Genetic and epigenetic variability in the gene for IGFBP-3 (IGFBP3): correlation with serum IGFBP-3 levels and growth in short children born small for gestational age. Growth Horm IGF Res 19:198-205
13. Tanner JM, Whitehouse RH, Takaishi M 1966 Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I. Arch Dis Child 41:454-471
14. Kuczmarski RJ, Ogden CL, Grummer-Strawn LM, Flegal KM, Guo SS, Wei R, Mei Z, Curtin LR, Roche AF, Johnson CL 2000 CDC growth charts: United States. Adv Data 1-27
15. Greulich WW, Pyle SI 1959 Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Palo Alto, CA: Stanford University Press
16. Audi L, Esteban C, Carrascosa A, Espadero R, Pérez-Arroyo A, Arjona R, Clemente M, Wollmann H, Fryklund L, Parodi LA 2006 Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n = 247) and in an adult control population (n = 289) show increased fl/flin short SGA. J Clin Endocrinol Metab 91:5038-5043 (Pubitemid 44917347)
17. Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M, Amselem S 2000 Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J Biol Chem 275:18664-18669
18. Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougnè res P 2004 A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat Genet 36:720-724
19. Meyer S, Schaefer S, Stolk L, Arp P, Uitterlinden AG, Plöckinger U, Stalla GK, Tuschy U, Weber MM, Weise A, Pfützner A, Kann PH 2009 Association of the exon 3 deleted/full-length GHR polymorphism with recombinant growth hormone dose in growth hormonedeficient adults. Pharmacogenomics 10:1599-1608
20. Costalonga EF, Antonini SR, Guerra-Junior G, Coletta RR, Franca MM, Braz AF, Mendonca BB, Arnhold IJ, Jorge AA 5 April 2011 Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and -202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency. Pharmacogenomics J 10.1038/tpj.2011.13
21. Jorge AA, Arnhold IJ 2009 Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. Horm Res 71(Suppl 2):55-63
22. Mullis PE 2011 Genetics of GHRH, GHRH-receptor, GH and GHreceptor: its impact on pharmacogenetics. Best Pract Res Clin Endocrinol Metab 25:25-41
23. Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA 2000 The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 9:695-702 (Pubitemid 30162753)
24. Binder G, Baur F, Schweizer R, Ranke MB 2006 The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational- age children. J Clin Endocrinol Metab 91:659-664 (Pubitemid 43236940)
25. Grimberg A, Cohen P 2000 Role of insulin-like growth factors and their binding proteins in growth control and carcinogenesis. J Cell Physiol 183:1-9 (Pubitemid 30130219)
26. Baxter RC 2000 Insulin-like growth factor (IGF)-binding proteins: interactions with IGFs and intrinsic bioactivities. Am J Physiol Endocrinol Metab 278:E967-E976 (Pubitemid 30439132)
27. Mohan S, Baylink DJ 2002 IGF-binding proteins are multifunctional and act via IGF-dependent and -independent mechanisms. J Endocrinol 175:19-31 (Pubitemid 35276583)
28. Bannink EM, van Doorn J, Stijnen T, Drop SL, de Muinck Keizer- Schrama SM 2006 Free dissociable insulin-like growth factor I (IGFI), total IGF-I and their binding proteins in girls with Turner syndrome during long-term growth hormone treatment. Clin Endocrinol (Oxf) 65:310-319
29. Jogie-Brahim S, Feldman D, Oh Y 2009 Unraveling insulin-like growth factor binding protein-3 actions in human disease. Endocr Rev 30:417-437
30. Deal C, Ma J, Wilkin F, Paquette J, Rozen F, Ge B, Hudson T, Stampfer M, Pollak M 2001 Novel promoter polymorphism in insulin- like growth factor-binding protein-3: correlation with serum levels and interaction with known regulators. J Clin Endocrinol Metab 86:1274-1280 (Pubitemid 32323016)