A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 3, 2008, Pages 1005-1012

  Giordano, Mara ^a   Godi, Michela ^a   Mellone, Simona ^a   Petri, Antonella ^a   Vivenza, Daniela ^a   Tiradani, Luigi ^a   Carlomagno, Yari ^a   Ferrante, Daniela ^a   Arrigo, Teresa ^b   Corneli, Ginevra ^a   Bellone, Simonetta ^a   Giacopelli, Francesca ^c   Santoro, Claudio ^a   Bona, Gianni ^a   Momigliano Richiardi, Patricia ^a  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LUCIFERASE; VITAMIN D;

ALLELE; ARTICLE; CONTROLLED STUDY; DRUG INHIBITION; GEL MOBILITY SHIFT ASSAY; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; GROWTH HORMONE DEFICIENCY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 40849097546     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-1918     Document Type: Article

References (35)

1. Bona G, Paracchini R, Giordano M, Momigliano-Richiardi P 2004 Genetic defects in GH synthesis and secretion. Eur J Endocrinol 151:1-8
2. Mullis PE 2005 Genetic control of growth. Eur J Endocrinol 152:11-31
3. Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y, Shimatsu A, Tanaka H, Tanizawa T, Teramoto A, Nishi Y, Hasegawa Y, Hizuka N, Hirano T, Fujita K, GH; Treatment Study Committee, The Foundation for Growth Science, Japan 2005 Studies of very severe short stature with severe GH deficiency: from the data registered with the foundation for growth science. Endocr J 52:37-43
4. Alba M, Salvatori R 2004 Familial growth hormone deficiency and mutations in the GHRH receptor gene. Vitam Horm 69:209-220
5. Courtois SJ, Lafontaine DA, Lemaigre FP, Durviaux SM, Rousseau GG 1990 Nuclear factor-I and activator protein-2 bind in a mutually exclusive way to overlapping promoter sequences and trans-activate the human growth hormone gene. Nucleic Acids Res 18:57-64
6. Lemaigre FP, Courtois SJ, Lafontaine DA, Rousseau GG 1989 Evidence that the upstream stimulatory factor and the Sp1 transcription factor bind in vitro to the promoter of the human-growth-hormone gene. Eur J Biochem 181:555-561
7. Lipkin SM, Naar AM, Kalla KA, Sack RA, Rosenfeld MG 1993 Identification of a novel zinc finger protein binding a conserved element critical for Pit-1-dependent growth hormone gene expression. Genes Dev 7:1674-1687
8. Seoane S, Alonso M, Segura C, Perez-Fernandez R 2002 Localization of a negative vitamin D response sequence in the human growth hormone gene. Biochem Biophys Res Commun 292:250-255
9. Shepard AR, Zhang W, Eberhardt NL 1994 Two CGTCA motifs and a GHF1/Pit1 binding site mediate cAMP-dependent protein kinase A regulation of human growth hormone gene expression in rat anterior pituitary GC cells. J Biol Chem 269:1804-1814
10. Ingraham HA, Chen RP, Mangalam HJ, Elsholtz HP, Flynn SE, Lin CR, Simmons DM, Swanson L, Rosenfeld MG 1988 A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype. Cell 55:519-529
11. Shewchuk BM, Liebhaber SA, Cooke NE 2002 Specification of unique Pit-1 activity in the hGH locus control region. Proc Natl Acad Sci USA 99:11784-11789
12. Giordano M, Marchetti C, Chiorboli E, Bona G, Momigliano-Richiardi P 1997 Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene. Hum Genet 100:249-255
13. Wagner JK, Ebl A, Cogan JD, Prince MA, Phillips III JA, Mullis PE 1997 Allelic variations in the human growth hormone-1 gene promoter of growth hormone-deficient patients and normal controls. Eur J Endocrinol 137:474-478
14. Horan M, Millar DS, Hedderich J, Lewis G, Newsway V, Mo N, Fryklund L, Procter AM, Krawczak M, Cooper DN 2003 Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region. Hum Mutat 21:408-423
15. Giordano M, Godi M, Giacopelli F, Lessi M, Mellone S, Paracchini R, Petri A, Bellone J, Ravazzolo R, Bona G, Momigliano-Richiardi P 2006 A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity. Mol Cell Endocrinol 249:51-57
16. Le Marchand L, Donlon T, Seifried A, Kaaks R, Rinaldi S, Wilkens LR 2002 Association of a common polymorphism in the human GH1 gene with colorectal neoplasia. J Natl Cancer Inst 94:454-460
17. Ren Z, Cai Q, Shu XO, Cai H, Cheng JR, Wen WQ, Gao YT, Zheng W 2004 Genetic polymorphisms in the human growth hormone-1 gene (GH1) and the risk of breast carcinoma. Cancer 101:251-257
18. Canzian F, McKay JD, Cleveland RJ, Dossus L, Biessy C, Boillot C, Rinaldi S, Llewellyn M, Chajes V, Clavel-Chapelon F, Tehard B, Chang-Claude J, Linseisen J, Lahmann PH, Pischon T, Trichopoulos D, Trichopoulou A, Zilis D, Palli D, Tumino R, Vineis P, Berrino F, Bueno-de-Mesquita HB, van Gils CH, Peeters PH, Pera G, Barricarte A, Chirlaque MD, Quiros JR, Larranaga N, Martinez-Garcia C, Allen NE, Key TJ, Bingham SA, Khaw KT, Slimani N, Norat T, Riboli E, Kaaks R 2005 Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study. Cancer Epidemiol Biomarkers Prev 14:2316-2325
19. Mulhall C, Hegele RA, Cao H, Tritchler D, Yaffe M, Boyd NF 2005 Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone. Cancer Epidemiol Biomarkers Prev 14:2648-2654
20. Wagner K, Hemminki K, Israelsson E, Grzybowska E, Klaes R, Chen B, Butkiewicz D, Pamula J, Pekala W, Forsti A 2005 Association of polymorphisms and haplotypes in the human growth hormone 1 (GH1) gene with breast cancer. Endocr Relat Cancer 12:917-928
21. Dennison EM, Syddall HE, Rodriguez S, Voropanov A, Day IN, Cooper C, Southampton Genetic Epidemiology Group 2004 Polymorphism in the growth hormone gene, weight in infancy, and adult bone mass. J Clin Endocrinol Metab 89:4898-4903
22. Horan M, Newsway V, Yasmin, Lewis MD, Easter TE, Rees DA, Mahto A, Millar DS, Procter AM, Scanlon MF, Wilkinson IB, Hall IP, Wheatley A, Blakey J, Bath PM, Cockcroft JR, Krawczak M, Cooper DN 2006 Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke. Hum Genet 119: 527-540
23. Hasegawa Y, Fujii K, Yamada M, Igarashi Y, Tachibana K, Tanaka T, Onigata K, Nishi Y, Kato S, Hasegawa T 2000 Identification of novel human GH-1 gene polymorphisms that are associated with growth hormone secretion and height. J Clin Endocrinol Metab 85:1290-1295
24. Tanner JM, Whitehouse RH 1976 Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty. Arch Dis Child 51:170-179
25. Tanner JM, Whitehouse RH, Cameron N, Marshall WA, Healy WA, Goldstein H 1988 Assessment of skeletal maturity and prediction of adult height (TW2 method). San Diego, CA: Academic Press
26. Ghigo E, Bellone J, Aimaretti G, Bellone S, Loche S, Cappa M, Bartolotta E, Dammacco F, Camanni F 1996 Reliability of provocative tests to assess growth hormone secretory status: study in 472 normally growing children. J Clin Endocrinol Metab 81:3323-3332
27. Growth Hormone Research Society 2000 Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society. J Clin Endocrinol Metab 85:3990-3993
28. Jin Y, Surabhi RM, Fresnoza A, Lytras A, Cattini PA 1999 A role for A/T-rich sequences and Pit-1/GHF-1 in a distal enhancer located in the human growth hormone locus control region with preferential pituitary activity in culture and transgenic mice. Mol Endocrinol 13:1249-1266
29. D'Alfonso S, Mellai M, Giordano M, Pastore A, Malferrari G, Naldi P, Repice A, Liguori M, Cannoni S, Milanese C, Caputo D, Savettieri G, Momigliano-Richiardi P; Italian Group for the Study of Multiple Sclerosis Genetics 2002 Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis. J Neuroimmunol 126:196-204
30. Esteban C, Audi L, Carrascosa A, Fernandez-Cancio M, Perez-Arroyo A, Ulied A, Andaluz P, Arjona R, Albisu M, Clemente M, Gussinye M, Yeste D 2007 Humangrowth hormone (GH1) gene polymorphismmapin a normal-statured adult population. Clin Endocrinol (Oxf) 66:258-268
31. Gil-Puig C, Blanco M, Garcia-Caballero T, Segura C, Perez-Fernandez R 2002 Pit-1/GHF-1 and GH expression in the MCF-7 human breast adenocarcinoma cell line. J Endocrinol 173:161-167
32. Dattani MT 2005 Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? Clin Endocrinol (Oxf) 63:121-130
33. 3-receptor heterodimers with high affinity. Mol Cell Endocrinol 113:85-98
34. Shaffer PL, Gewirth DT 2002 Structural basis of VDR-DNA interactions on direct repeat response elements. EMBO J 21:2242-2252
35. Perez-Fernandez R, Alonso M, Segura C, Munoz I, Garcia-Caballero T, Diguez C 1997 Vitamin D receptor gene expression in human pituitary gland. Life Sci 60:35-42