Related Experiment Video

Updated: May 3, 2026

A Method of Trigonometric Modelling of Seasonal Variation Demonstrated with Multiple Sclerosis Relapse Data
10:46

A Method of Trigonometric Modelling of Seasonal Variation Demonstrated with Multiple Sclerosis Relapse Data

Published on: December 9, 2015

10.7K

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

  • 1Institute of Medical Molecular Biotechnology (IMMB), Faculty of Medicine, Universiti Teknologi MARA (UiTM), Cawangan Selangor, Kampus Sungai Buloh, Jalan Hospital, Sungai Buloh, Malaysia.

Clinical and Experimental Pediatrics
|November 13, 2024
PubMed

Insights

Vitamin D deficiency is common in children and adolescents, impacting growth and immunity. This review explores how vitamin D receptor (VDR) gene variations influence these health outcomes in young populations.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • The skin acts as a peripheral endocrine organ, synthesizing vitamin D upon sun exposure.
  • Vitamin D plays a crucial role in numerous physiological processes, with its effects mediated by the vitamin D receptor (VDR).
  • Vitamin D deficiency is increasingly prevalent in children and adolescents, linked to various health issues.

Purpose of the Study:

  • To review the association between vitamin D endocrine system, VDR gene polymorphisms, and health in children and adolescents.
  • To elucidate the impact of VDR gene variations on growth, puberty, insulin resistance, and immune function in pediatric populations.
  • To address geographical and racial variations influencing VDR polymorphism-disease associations.

Main Methods:

  • Literature review focusing on studies concerning vitamin D, VDR gene, and pediatric health.
  • Analysis of research examining the relationship between VDR polymorphisms and endocrine-related disorders in children and adolescents.
  • Synthesis of data on the pleiotropic effects of vitamin D and its receptor.

Main Results:

  • VDR gene polymorphisms exhibit variable associations with vitamin D endocrine disorders across different populations.
  • Geographical and racial factors contribute to the heterogeneity in VDR polymorphism effects.
  • Vitamin D deficiency and VDR gene variations can impact pediatric growth, pubertal development, insulin resistance, and immune responses.

Conclusions:

  • VDR gene polymorphisms are significant factors in pediatric vitamin D endocrine health.
  • Understanding these genetic variations is crucial for addressing health disparities and disease development in children and adolescents.
  • Further research is needed to clarify population-specific VDR polymorphism impacts on pediatric health outcomes.
Keywords:
AutoimmunityEndocrineInsulin resistancePolymorphismVitamin D

More Related Videos

Homogeneous Time-resolved Förster Resonance Energy Transfer-based Assay for Detection of Insulin Secretion07:30

Homogeneous Time-resolved Förster Resonance Energy Transfer-based Assay for Detection of Insulin Secretion

Published on: May 10, 2018

9.2K
Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model09:44

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model

Published on: March 5, 2022

2.9K

Related Concept Videos

Receptor Downregulation in MVBs01:15

Receptor Downregulation in MVBs

Multivesicular bodies (MVBs) are mature endosomes that sort ubiquitinated proteins and then fuse with lysosomes to degrade the sorted proteins. Epidermal growth factor (EGF) and its receptor (EGFR) form a complex that can be internalized through endocytosis, sorted into an MVB, and later degraded.
The EGFR can initiate signaling pathways that  lead to cell proliferation, migration, and differentiation. Overexpression of EGFR  stimulates cells to proliferate. Excessive  EGFR...
2.0K
Role of Skin in Vitamin D Synthesis01:23

Role of Skin in Vitamin D Synthesis

The skin plays a crucial role in the synthesis of vitamin D, a vital nutrient for various physiological processes in the body. Vitamin D is unique because it can be synthesized in the skin through a series of chemical reactions triggered by exposure to ultraviolet B (UVB) radiation from sunlight.
The solar UV B rays (290-315 nm) are absorbed by the skin, and 7-dehydrocholesterol (provitamin D3) photolyzes it to previtamin D3, which undergoes a rapid transformation to vitamin...
8.1K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
159
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
81
Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence...
23
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
20