Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 12, 2008, Pages 4672-4682

  Jehan, Frédéric ^a   Gaucher, Céline ^a   Thi, Minh Nguyen ^a   Walrant Debray, Odile ^a   Lahlou, Najiba ^a   Sinding, Christiane ^a   Déchaux, Michèle ^b   Garabédian, Michèle ^a  

^a HÔPITAL SAINT VINCENT DE PAUL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

1 ALPHA HYDROXYVITAMIN D DERIVATIVE; ALFACALCIDOL; FIBROBLAST GROWTH FACTOR 23; PARATHYROID HORMONE RECEPTOR 1; PHOSPHATE; UNCLASSIFIED DRUG; VITAMIN D DERIVATIVE; VITAMIN D RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; BONE MALFORMATION; CALCIUM URINE LEVEL; DISEASE SEVERITY; DNA POLYMORPHISM; DRUG DOSE INCREASE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HYPOPHOSPHATEMIC RICKETS; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; TREATMENT RESPONSE;

EID: 57349171352     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-2553     Document Type: Article

References (37)

1. Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH 2005 Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Nat Genet 37:435-340
2. Albright, F, Butler, AM Bloomberg E 1937 Rickets resistant to vitamin D therapy. Am J Dis Child 54:529-547
3. Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH 1958 A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature. Medicine 37:97-142
4. Glorieux FH, Marie PJ, Pettifor JM, Delvin EE 1980 Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. N Engl J Med 303:1023-1031
5. Rasmussen H, Pechet M, Anast C, Mazur A, Gertner J, Broadus AE 1981 Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1α-hydroxyvitamin D3. J Pediatr 99:16-25
6. Chesney RW, Mazess RB, Rose P, Hamstra AJ, DeLuca HF, Breed AL 1983 Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets. Pediatrics 71:559-567
7. Lobaugh B, Drezner MK 1983 Abnormal regulation of renal 25-hydroxyvitamin D-1α-hydroxylase activity in the X-linked hypophosphatemic mouse. J Clin Invest 71:400-403
8. Berndt M, Ehrich JH, Lazovic D, Zimmermann J, Hillmann G, Kayser C, Prokop M, Schirg E, Siegert B, Wolff G, Brodehl J 1996 Clinical course of hypophosphatemic rickets in 23 adults. Clin Nephrol 45:33-41
9. Chaussain-Miller C, Sinding C, Wolikow M, Lasfargues JJ, Godeau G, Garabedian M 2003 Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1α-hydroxyvitamin D. J Pediatr 142:324-331
10. Borghi MM, Coates V, Omar HA 2005 Evaluation of stature development during childhood and adolescence in individuals with familial hypophosphatemic rickets. Sci World J 5:868-873
11. Chan JC, Lovinger RD, Mamunes P 1980 Renal hypophosphatemic rickets: growth acceleration after long-term treatment with 1,25- dihydroxyvitamin-D3. Pediatrics 66:445-454
12. Tsuru N, Chan JC, Chinchilli VM 1987 Renal hypophosphatemic rickets: growth and mineral metabolism after treatment with calcitriol (1,25-dihydroxyvitamin D3) and phosphate supplementation. Am J Dis Child 141:108-110
13. Reusz GS, Brodehl J, Krohn HP, Ehrich JH 1990 Hypophosphataemic rickets. Lancet 335:178
14. Balsan S, Tieder M 1990 Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: influence of treatment regimen and parental height. J Pediatr 116:365-371
15. Verge CF, Lam A, Simpson JM, Cowell CT, Howard NJ, Silink M 1991 Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med 325:1843-1848
16. Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI, Choi, Y 2005 A clinical and molecular genetic study of hypophosphatemic rickets in children. Pediatr Res 58:329-333
17. Miyamoto J, Koto S, Hasegawa, Y 2000 Final height of Japanese patients with X-linked hypophosphatemic rickets: effect of vitamin D and phosphate therapy. Endocr J 47:163-167
18. Stickler GB, Morgenstern BZ 1991 Treatment of hypophosphatemic rickets. J Pediatr 118:653-654
19. Ariceta G, Langman CB 2007 Growth in X-linked hypophosphatemic rickets. Eur J Pediatr 166:303-309
20. Makitie O, Doria A, Kooh SW, Cole WG, Danema A, Sochett E 2003 Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 88:3591-3597
21. Baroncelli GI, Bertelloni S, Sodini F, Galli L, Vanacore T, Fiore L, Saggese G 2004 Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets. Pediatr Endocrinol Rev 1:361-379
22. d'Alesio A, Garabedian M, Sabatier JP, Guaydier-Souquières G, Marcelli C, Lemaçon A, Walrant-Debray O, Jehan F 2005 Two single-nucleotide polymorphisms in the human vitamin D receptor promoter change protein-DNA complex formation and are associated with height and vitamin D status in adolescent girls. Hum Mol Genet 14:3539-3548
23. Crofts LA, Hancock MS, Morrison NA, Eisman JA 1998 Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts. Proc Natl Acad Sci USA 95:10529-10534
24. Nejentsev S, Godfrey L, Snook H, Rance H, Nutland S, Walker NM, Lam AC, Guja C, Ionescu-Tirgoviste C, Undlien DE, Rønningen KS, Tuomilehto-Wolf E, Tuomilehto J, Newport MJ, Clayton DG, Todd JA 2004 Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene. Hum Mol Genet 13:1633-1639
25. Fang Y, van Meurs JB, d'Alesio A, Jhamai M, Zhao H, Rivadeneira F, Hofman A, van Leeuwen JP, Jehan F, Pols HA, Uitterlinden AG 2005 Promoter and 3′-untranslated-region haplotypes in the vitamin D receptor gene predispose to osteoporotic fracture: the Rotterdam study. Am J Hum Genet 77:807-823
26. The International HapMap Consortium 2003 The International HapMap Project. Nature 426:789-796
27. Arai H, Miyamoto KI, Yoshida M, Yamamoto H, Taketani Y, Morita, K Kubota M, Yoshida S, Ikeda M, Watabe F, Kanemasa Y, Takeda E 2001 The polymorphism in the caudal-related homeodomain protein Cdx-2 binding element in the human vitamin D receptor gene. J Bone Miner Res 16:1256-1264
28. Halsall JA, Osborne JE, Potter L, Pringle JH, Hutchinson, PE 2004 A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibility and prognosis in malignant melanoma. Br J Cancer 91:765-770
29. Halsall JA, Osborne JE, Pringle JH, Hutchinson, PE 2005 Vitamin D receptor gene polymorphisms, particularly the novel A-1012G promoter polymorphism, are associated with vitamin D3 responsiveness and non-familial susceptibility in psoriasis. Pharmacogenet Genomics 15:349-355
30. Sempé M, Pédron G, Roy-Pernot MP 1979 Auxologie, méthodes et séquences. Paris: Théraplix
31. White KE, Larsson TM, Econs MJ 2006 The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23. Endocr Rev 27:221-241
32. Vilariño-Güell C, Miles LJ, Duncan EL, Ralston SH, Compston JE, Cooper C, Langdahl BL, Maclelland A, Pols HA, Reid DM, Uitterlinden AG, Steer CD, Tobias JH, Wass JA, Brown MA 2007 PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton. Calcif Tissue Int 81:270-278
33. Burnett SM, Gunawardene SC, Bringhurst FR, Jüppner H, Lee H, Finkelstein JS 2006 Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women. J Bone Miner Res. 21:1187-1196
34. Kolek OI, Hines ER, Jones MD, LeSueur LK, Lipko MA, Kiela PR, Collins JF, Haussler MR, Ghishan FK 2005 1α,25-Dihydroxyvitamin D3 upregulates FGF23 gene expression in bone: the final link in a renal-gastrointestinal- skeletal axis that controls phosphate transport. Am J Physiol Gastrointest Liver Physiol 289:G1036-G1042
35. Collins MT, Lindsay JR, Jain A, Kelly MH, Cutler CM, Weinstein LS, Liu J, Fedarko NS, Winer KK 2005 Fibroblast growth factor-23 is regulated by 1α,25-dihydroxyvitamin D. J Bone Miner Res 20:1944-1950
36. Barthel TK, Mathern DR, Whitfield GK, Haussler CA, Hopper 4th HA, Hsieh JC, Slater SA, Hsieh G, Kaczmarska M, Jurutka PW, Kolek OI, Ghishan FK, Haussler MR 2007 1,25-Dihydroxyvitamin D3/VDR-mediated induction of FGF23 as well as transcriptional control of other bone anabolic and catabolic genes that orchestrate the regulation of phosphate and calcium mineral metabolism. J Steroid Biochem Mol Biol 103:381-388
37. Masuyama R, Stockmans I, Torrekens S, Van Looveren R, Maes C, Carmeliet P, Bouillon R, Carmeliet G 2006 Vitamin D receptor in chondrocytes promotes osteoclastogenesis and regulates FGF23 production in osteoblasts. J Clin Invest 116:3150-3159