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Parathyroid hormone and its receptor gene polymorphisms: implications in osteoporosis and in fracture healing

  • Review Article - Genes and Disease
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Abstract

Parathyroid glands secrete parathyroid hormone (PTH) which plays multiple roles in calcium homeostasis and in bone remodeling. Secretion of PTH is regulated by extracellular calcium levels and other humoral factors including 1α,25(OH)2D3. PTH regulates gene expression and induces biological effects directly and indirectly. The human gene encoding PTH is located on chromosome 11. In this review, we study the diverse PTH along with its receptor gene polymorphisms and their association with osteoporosis and fracture healing. Genetic factors are associated with osteoporosis by influencing bone mineral density (BMD), bone turnover, calcium homeostasis, and susceptibility to osteoporotic fractures. Polymorphisms in genes encoding PTH may contribute to genetic regulation of BMD and thus susceptibility to fracture risk. PTH stimulates the proliferation of osteoprogenitor cells, production of alkaline phosphatise, and bone matrix proteins that contribute to hard callus formation and increases strength at the site of fractured bone. During remodeling, PTH promotes osteoclastogenesis restoring the original shape, structure, and mechanical strength of the bone. Some PTH polymorphisms have shown an association with fracture risk. Further research is needed to elucidate the relative importance of PTH genetics and the mechanisms of genetic contributions to gene–gene interactions in the pathogenesis of osteoporosis and in fracture healing.

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Authors and Affiliations

  1. Department of Surgery, Aga Khan University, Karachi, Pakistan

    Shahryar Noordin

  2. Department of Orthopedic Surgery, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA

    Julie Glowacki

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  1. Shahryar Noordin
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  2. Julie Glowacki
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Correspondence to Shahryar Noordin.

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Noordin, S., Glowacki, J. Parathyroid hormone and its receptor gene polymorphisms: implications in osteoporosis and in fracture healing. Rheumatol Int 36, 1–6 (2016). https://doi.org/10.1007/s00296-015-3319-9

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