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A review of vitamin D deficiency and vitamin D receptor polymorphisms in endocrine related disorders

Clin Exp Pediatr > Accepted Articles
DOI: https://doi.org/10.3345/cep.2024.00227    [Accepted]
Published online November 6, 2024.
A review of vitamin D deficiency and vitamin D receptor polymorphisms in endocrine related disorders
Nur Faten Hafizah Rosli1, Noor Shafina Mohd Nor1,2,3  , Rose Adzrianee Adnan4, Siti Hamimah Sheikh Abdul Kadir1,3,5
1Institute of Medical Molecular Biotechnology (IMMB), Faculty of Medicine, Universiti Teknologi MARA (UiTM), Selangor Branch, Sungai Buloh Campus, Jalan Hospital, 47000 , Sungai Buloh, Selangor, Malaysia
2Department of Paediatrics, Faculty of Medicine, Universiti Teknologi MARA (UiTM), Selangor Branch, Sungai Buloh Campus, Jalan Hospital, 47000, Sungai Buloh, Selangor, Malaysia
3Institute for Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA (UiTM), Selangor Branch, Sungai Buloh Campus, Jalan Hospital, 47000, Sungai Buloh, Selangor, Malaysia
4Department of Pathology, Faculty of Medicine, Universiti Teknologi MARA (UiTM), Selangor Branch, Sungai Buloh Campus, Jalan Hospital, 47000, Sungai Buloh, Selangor, Malaysia
5Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Universiti Teknologi MARA (UiTM), Selangor Branch, Sungai Buloh Campus, Jalan Hospital, 47000, Sungai Buloh, Selangor, Malaysia
Correspondence: 
Noor Shafina Mohd Nor, Email: drshafina@uitm.edu.my
Received: 8 February 2024   • Revised: 5 June 2024   • Accepted: 10 July 2024
Abstract
The endocrine system is a complex network of glands that produce and release hormones that regulate various physiological processes. In the past few decades, the human skin has been identified as an important peripheral endocrine organ that is the main site for the synthesis of vitamin D through exposure to sunlight. Mutations in downstream vitamin D–related gene pathways are associated with disease development. The vitamin D receptor (VDR) gene, which regulates the pleiotropic effects of vitamin D, has been extensively studied in adult populations. Several studies have reported the prevalence of vitamin D deficiency in children and adolescents. With changes in socioeconomic status and lifestyle, vitamin D-deficient individuals are prone to developing the disease at a young age. However, geographical and racial differences affect the association between VDR gene polymorphisms and vitamin D endocrine disorders, explaining the non-consensus effects of polymorphisms and their association with disease development across populations. In this review, we discuss the connection between the vitamin D endocrine system and polymorphisms in the gene encoding VDR in children and adolescents, focusing on its effects on growth, puberty, insulin resistance, and the immune system.
Key Words: Vitamin D, Endocrine, Polymorphism, Insulin resistance, Autoimmunity


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