Association of polymorphisms in the vitamin D receptor promoter with idiopathic short stature

Journal of Korean Medical Science

Volumn 28, Issue 9, 2013, Pages 1329-1333

  Choi, Seo Kyung ^a   Park, Mun Suk ^a   Song, Jun Kyu ^a   Yoon, Kyung Sik ^a   Yoon, Kyung Lim ^a   Shim, Kye Shik ^a  

^a Kyung Hee University Hospital   (South Korea)

Author keywords

Genetic; Idiopathic; Polymorphism; Short stature; Vitamin d receptor promoter

Indexed keywords

CALCITRIOL RECEPTOR; CDX2 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN;

ADOLESCENT; ALLELE; ARTICLE; BINDING SITE; CHILD; DWARFISM; EXON; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HUMAN; MALE; METABOLISM; PROMOTER REGION; SHORT STATURE, IDIOPATHIC; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN D RECEPTOR PROMOTER;

POLYMORPHISM, GENETIC; SHORT STATURE, IDIOPATHIC; VITAMIN D RECEPTOR PROMOTER;

ADOLESCENT; ALLELES; BINDING SITES; CHILD; DWARFISM; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RECEPTORS, CALCITRIOL;

EID: 84884393916     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2013.28.9.1329     Document Type: Article

References (27)

1. Xiong DH, Xu FH, Liu PY, Shen H, Long JR, Elze L, Recker RR, Deng HW. Vitamin D receptor gene polymorphisms are linked to and associated with adult height. J Med Genet 2005; 42: 228-34.
2. vander Sluis IM, de Muinck Keizer-Schrama SM, Krenning EP, Pols HA, Uitterlinden AG. Vitamin D receptor gene polymorphism predicts height and bone size, rather than bone density in children and young adults. Calcif Tissue Int 2003; 73: 332-8.
3. Arai H, Miyamoto K, Taketani Y, Yamamoto H, Iemori Y, Morita K, Tonai T, Nishisho T, Mori S, Takeda E. A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 1997; 12: 915-21.
4. Durrin LK, Haile RW, Ingles SA, Coetzee GA. Vitamin D receptor 3'-untranslated region polymorphisms: lack of effect on mRNA stability. Biochim Biophys Acta 1999; 1453: 311-20.
5. Arai H, Miyamoto KI, Yoshida M, Yamamoto H, Taketani Y, Morita K, Kubota M, Yoshida S, Ikeda M, Watabe F, et al. The polymorphism in the caudal-related homeodomain protein Cdx-2 binding element in the human vitamin D receptor gene. J Bone Miner Res 2001; 16: 1256-64.
6. Tiosano D, Gepstein V. Vitamin D action: lessons learned from hereditary 1,25-dihydroxyvitamin-D-resistant rickets patients. Curr Opin Endocrinol Diabetes Obes 2012; 19: 452-9.
7. Li Y, Xi B, Li K, Wang C. Association between vitamin D receptor gene polymorphisms and bone mineral density in Chinese women. Mol Biol Rep 2012; 39: 5709-17.
8. Engel LS, Orlow I, Sima CS, Satagopan J, Mujumdar U, Roy P, Yoo S, Sandler DP, Alavanja MC. Vitamin D receptor gene haplotypes and polymorphisms and risk of breast cancer: a nested case-control study. Cancer Epidemiol Biomarkers Prev 2012; 21: 1856-67.
9. Searing DA, Leung DY. Vitamin D in atopic dermatitis, asthma and allergic diseases. Immunol Allergy Clin North Am 2010; 30: 397-409.
10. Fang WL, Gao LB, Liang WB, Xue H, Bai P, Lv ML, Wang YY, Zhou B, Zhang L. Association analysis of vitamin D receptor gene polymorphisms in chinese population with asthma. Iran J Allergy Asthma Immunol 2009; 8: 141-7.
11. Dempfle A, Wudy SA, Saar K, Hagemann S, Friedel S, Scherag A, Berthold LD, Alzen G, Gortner L, Blum WF, et al. Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies. Hum Mol Genet 2006; 15: 2772-83.
12. D'Alésio A, Garabédian M, Sabatier JP, Guaydier-Souquières G, Marcelli C, Lemaçon A, Walrant-Debray O, Jehan F. 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 2005; 14: 3539-48.
13. Fang Y, van Meurs JB, Rivadeneira F, van Schoor NM, van Leeuwen JP, Lips P, Pols HA, Uitterlinden AG. Vitamin D receptor gene haplotype is associated with body height and bone size. J Clin Endocrinol Metab 2007; 92: 1491-501.
14. Jorde R, Svartberg J, Joakimsen RM, Grimnes G. Associations between polymorphisms related to calcium metabolism and human height: the Tromsø Study. Ann Hum Genet 2012; 76: 200-10.
15. Wit JM. Definition and subcategorization of idiopathic short stature: between consensus and controversy. Horm Res Paediatr 2011; 76: 3-6.
16. Korea Center for Disease Control and Prevention, the Korean Pediatric Society, the Committee for the Development of Growth Standard for Korean Children and Adolescents. 2007 Korean Children and Adolescents Growth Standard (commentary for the development of 2007 growth chart). Seoul: Division of Chronic Disease Surveillance. Available at http://www.cdc.go.kr/CDC/notice/CdcKrTogether0302.jsp?menuIds=HOME001-MNU0004-MNU0085-MNU0088&cid=9838 [accessed on 30 July 2009]
17. Haussler MR, Whitfield GK, Haussler CA, Hsieh JC, Thompson PD, Selznick SH, Dominguez CE, Jurutka PW. The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J Bone Miner Res 1998; 13: 325-49.
18. Lee YH, Choi SJ, Ji JD, Song GG. Vitamin D receptor ApaI, TaqI, BsmI, and FokI polymorphisms and psoriasis susceptibility: a meta-analysis. Mol Biol Rep 2012; 39: 6471-8.
19. Köstner K, Denzer N, Müller CS, Klein R, Tilgen W, Reichrath J. The relevance of vitamin D receptor (VDR) gene polymorphisms for cancer: a review of the literature. Anticancer Res 2009; 29: 3511-36.
20. Uitterlinden AG, Fang Y Van Meurs JB, Pols HA, Van Leeuwen JP. Genetics and biology of vitamin D receptor polymorphisms. Gene 2004; 338: 143-56.
21. Lorentzon M, Lorentzon R, Nordström P. Vitamin D receptor gene polymorphism is associated with birth height, growth to adolescence, and adult stature in healthy caucasian men: a cross-sectional and longitudinal study. J Clin Endocrinol Metab 2000; 85: 1666-70.
22. Minamitani K, Takahashi Y, Minagawa M, Yasuda T, Niimi H. Difference in height associated with a translation start site polymorphism in the vitamin D receptor gene. Pediatr Res 1998; 44: 628-32.
23. Suarez F, Rossignol C, Garabédian M. Interactive effect of estradiol and vitamin D receptor gene polymorphisms as a possible determinant of growth in male and female infants. J Clin Endocrinol Metab 1998; 83: 3563-8.
24. Fang Y, van Meurs JB, Bergink AP, Hofman A, van Duijn CM, van Leeuwen JP, Pols HA, Uitterlinden AG. Cdx-2 polymorphism in the promoter region of the human vitamin D receptor gene determines susceptibility to fracture in the elderly. J Bone Miner Res 2003; 18: 1632-41.
25. Esterle L, Jehan F, Sabatier JP, Garabedian M. Higher milk requirements for bone mineral accrual in adolescent girls bearing specific caucasian genotypes in the VDR promoter. J Bone Miner Res 2009; 24: 1389-97.
26. Jehan F, Voloc A, Esterle L, Walrant-Debray O, Nguyen TM, Garabedian M. Growth, calcium status and vitamin D receptor (VDR) promoter genotype in European children with normal or low calcium intake. J Steroid Biochem Mol Biol 2010; 121: 117-20.
27. Shivane VK, Sarathi V, Lila AR, Bandgar T, Joshi SR, Menon PS, Shah NS. Peak bone mineral density and its determinants in an Asian Indian population. J Clin Densitom 2012; 15: 152-8.