Vitamin D receptor polymorphisms and nutritional rickets in Nigerian children.

作者: Philip R. Fischer , Tom D. Thacher , John M. Pettifor , Lynn B. Jorde , T. Ross Eccleshall

DOI: 10.1359/JBMR.2000.15.11.2206

关键词: Calcitriol receptorBiologyAlleleAllele frequencyInternal medicineVitamin D and neurologyEndocrinologyvitamin D deficiencyRicketsNutritional RicketsGenotype

摘要: Nutritional rickets is common in Nigeria where vitamin D deficiency rare and dietary insufficiency of calcium common. It occurs more commonly siblings affected children than unaffected children. Postulating that receptor (VDR) polymorphisms might relate to the susceptibility some Nigerian develop setting low intake, we compared VDR genotypes, as determined by presence or absence Bsm I, Apa Taq Fok I restriction enzyme cleavage sites, between 105 with active nutritional 94 subjects representative community from which rachitic came. In group, ff genotype was less FF relatively increased (f allele frequency, 17% 26% p = 0.03). Neither individual frequencies for other nor combinations genotypes at different sites were groups. Although it not clear why a presumed better-functioning variant (F allele) associated an risk developing rickets, this study raises possibility alleles be important determining individual's when faced deficiency.

参考文章(33)
James L. Mohler, Jack A. Taylor, Mary Watson, Douglas A. Bell, Gary Pittman, Ari Hirvonen, Association of Prostate Cancer with Vitamin D Receptor Gene Polymorphism Cancer Research. ,vol. 56, pp. 4108- 4110 ,(1996)
Glinda S. Cooper, David M. Umbach, Are vitamin D receptor polymorphisms associated with bone mineral density? A meta‐analysis Journal of Bone and Mineral Research. ,vol. 11, pp. 1841- 1849 ,(2010) , 10.1002/JBMR.5650111203
W. C. Cheng, K. S. Tsai, The Vitamin D Receptor Start Codon Polymorphism ( Osteoporosis International. ,vol. 9, pp. 545- ,(1999) , 10.1007/S001980050274
Mark A. Pfitzner, Tom D. Thacher, John M. Pettifor, A.I. Zoakah, Juliana O. Lawson, Christian O. Isichei, Philip R. Fischer, Absence of vitamin D deficiency in young Nigerian children The Journal of Pediatrics. ,vol. 133, pp. 740- 744 ,(1998) , 10.1016/S0022-3476(98)70143-X
Coleman Gross, Aruna V. Krishnan, Peter J. Malloy, T. Ross Eccleshall, Xiao-Yan Zhao, David Feldman, The Vitamin D Receptor Gene Start Codon Polymorphism: A Functional Analysis of FokI Variants† Journal of Bone and Mineral Research. ,vol. 13, pp. 1691- 1699 ,(1998) , 10.1359/JBMR.1998.13.11.1691
Nicholas Bishop, Rickets today--children still need milk and sunshine. The New England Journal of Medicine. ,vol. 341, pp. 602- 604 ,(1999) , 10.1056/NEJM199908193410810
Caroline Vandevyver, Tine Wylin, Jean-Jacques Cassiman, Jef Raus, Piet Geusens, Influence of the Vitamin D Receptor Gene Alleles on Bone Mineral Density in Postmenopausal and Osteoporotic Women Journal of Bone and Mineral Research. ,vol. 12, pp. 241- 247 ,(1997) , 10.1359/JBMR.1997.12.2.241
Hidekazu Arai, Ken-Ichi Miyamoto, Yutaka Taketani, Hironori Yamamoto, Yuka Iemori, Kyoko Morita, Takeharu Tonai, Takehiko Nishisho, Shigenobu Mori, Eiji Takeda, A Vitamin D Receptor Gene Polymorphism in the Translation Initiation Codon: Effect on Protein Activity and Relation to Bone Mineral Density in Japanese Women Journal of Bone and Mineral Research. ,vol. 12, pp. 915- 921 ,(1997) , 10.1359/JBMR.1997.12.6.915
Nigel A. Morrison, Jian Cheng Qi, Akifumi Tokita, Paul J. Kelly, Linda Crofts, Tuan V. Nguyen, Philip N. Sambrook, John A. Eisman, Prediction of Bone-Density from Vitamin-D Receptor Alleles Nature. ,vol. 367, pp. 284- 287 ,(1994) , 10.1038/367284A0