Association between AAAG Repeat Polymorphism in the P3 Promoter of the Human Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Gene and Adult Height, Urinary Pyridinoline Excretion, and Promoter Activity

We have identified a tetranucleotide repeat n polymorphism in the P3 promoter

Masanori Minagawa

2014

Scholarcy highlights

  • PTH AND THE hormonally active metabolite of vitamin D, 1,25-dihydroxyvitamin D, are the principal regulators of calcium homeostasis
  • The P3 promoter in the human PTH/PTHrP receptor gene is active in target tissues, bone and kidney
  • In the present study we identified a tetranucleotide repeatn polymorphism in this promoter region in both Japanese and Caucasians, with the AAAG5 allele being the most frequent in both
  • Our previous studies have shown that the AAAG repeat region represses P3 promoter activation in gene transfer experiments performed in human osteoblast-like SaOS-2 and HOS cells
  • Promoter function varied according to repeat number, with the AAAG6 variant exhibiting the least activity
  • There was no significant difference in either lumbar spine or femoral neck
  • If this finding is reflected by the relative expression level of the PTHR1 alleles in chondrocytes and bone cells in vivo, the predicted alterations in PTHR1 levels could be associated with parameters such as adult height and bone formation and resorption in young adults
  • The 6/6 genotype group of a cohort of young adult Japanese women was of significantly greater mean adult height compared with the 5/5 group and had significantly lower levels of urinary markers of bone resorption

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