title: [Population genetic correlation of vitamin D receptor polymorphisms with clinical disorders].
abstract: Calcitriol, the active metabolite of Vitamin D (1,25(OH)2D3) has several major roles in the body: hormonal regulation of calcium and phosphate-homeostasis, regulation of parathormone synthesis and modulation of the immune and endocrine systems. Due to its antiproliferative effects it also plays a role in tumour development. The calcitriol can have these differential effects as it is modulating gene expression in the cell nucleus. The effects of vitamin D are mediated by the nuclear vitamin D receptor, which heterodimerizes with the retinoid X receptor and changes gene transcription. Until now 5 single nucleotide polymorphisms of the vitamin D receptor gene have been identified. This review summarizes the identified effects of vitamin D receptor polymorphisms on bone homeostasis, on the parathyroid function, on diversal tumours and on diabetes.
authors: Semmelweis Egyetem Altalános Orvostudományi Kar, I. Gyermekklinika, Budapest. zsalab2@freemail.hu
authors: Balázs
authors: B
authors: Gyórffy
authors: András
authors: A
authors: Szabó
authors: Barna
authors: B
authors: Vásárhelyi
mesh_terms: D001842:Bone and Bones / Q000378:metabolism*; D003920:Diabetes Mellitus / Q000276:immunology / Q000378:metabolism; D005786:Gene Expression Regulation; D005828:Genetics, Population; D006801:Humans; D006961:Hyperparathyroidism / Q000378:metabolism; D009369:Neoplasms / Q000378:metabolism; D010281:Parathyroid Hormone / Q000378:metabolism*; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics* / Q000276:immunology
chemical_list: D010281:Parathyroid Hormone; D018167:Receptors, Calcitriol