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.

@article{dAlsio2005TwoSP,
  title={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.},
  author={Arnold d'Al{\'e}sio and Mich{\`e}le Garab{\'e}dian and Jean Pierre Sabatier and Genevi{\`e}ve Guaydier-Souqui{\`e}res and Christian Marcelli and Audrey Lemaçon and Odile Walrant-Debray and Fr{\'e}d{\'e}ric Jehan},
  journal={Human molecular genetics},
  year={2005},
  volume={14 22},
  pages={3539-48}
}
Numerous association studies have dealt with single-nucleotide polymorphisms (SNPs) in coding and intronic regions of the human vitamin D receptor (hVDR) gene. We have hypothesized that phenotypic traits may also be associated with variations in VDR expression due to the presence of SNPs in promoter regions. In this work, we have studied two SNPs located 1521 bp (G/C) and 1012 bp (A/G) upstream of the transcriptional start site of the main human VDR gene promoter. One base-change in any of the… CONTINUE READING

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