Related Experiment Video
Updated: Jul 14, 2026
16:02
Demonstration of the Sequence Alignment to Predict Across Species Susceptibility Tool for Rapid Assessment of Protein Conservation
Published on: February 10, 2023
Genetic variation in thyroid hormone transporters
Wendy M van der Deure1, Robin P Peeters, Theo J Visser
1Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands. w.vanderdeure@erasmusmc.nl
Summary
Genetic variations, or single nucleotide polymorphisms, influence thyroid hormone levels. New research on thyroid hormone transporters is emerging, expanding our understanding of thyroid function and related health conditions.
Area of Science:
- Genetics
- Endocrinology
- Genomics
Background:
- Human genome sequencing has spurred genetic research.
- Single nucleotide polymorphisms (SNPs) are common genetic variations studied for their health impacts.
- Thyroid hormone regulation is influenced by genetic factors, including SNPs.
Purpose of the Study:
- To review the current understanding of genetic variations in thyroid function.
- To highlight the emerging research area of thyroid hormone transporters.
- To explore the role of genetic polymorphisms in thyroid hormone set-point determination.
Main Methods:
- Review of recent scientific literature on genetic polymorphisms and thyroid function.
- Focus on studies investigating thyroid-stimulation hormone receptor and deiodinase genes.
- Identification of emerging research trends in thyroid hormone transport.
Main Results:
- Numerous studies on SNPs have been published.
- Research has focused on variations in thyroid-stimulation hormone receptor and deiodinases.
- Characterization of thyroid hormone transporters represents a new research frontier.
Conclusions:
- Genetic polymorphisms are significant in determining individual thyroid hormone levels.
- Thyroid hormone transporters are a novel area for investigating thyroid function and disease.
- Further research into genetic variations and thyroid hormone transport is warranted.
Related Concept Videos
01:16Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
01:11Pharmacogenetics 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...
01:20Synthesis and Regulation of Thyroid Hormones
Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The iodine is then...
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The iodine is then...
01:29Pharmacogenetic 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...
01:18Functions of Thyroid Hormones
The thyroid hormone (TH) plays a pivotal role in the intricate orchestration of physiological processes, exerting profound effects on development, metabolism, and homeostasis throughout different life stages.
TH is indispensable for the normal development and maturation of the skeletal, muscular, and nervous systems during fetal and childhood growth. It facilitates bone mineral turnover and regulates protein synthesis in developing tissues, contributing significantly to overall growth and...
TH is indispensable for the normal development and maturation of the skeletal, muscular, and nervous systems during fetal and childhood growth. It facilitates bone mineral turnover and regulates protein synthesis in developing tissues, contributing significantly to overall growth and...
01:27Nonlinear Pharmacokinetics: Role of Transporters
A drug's nonlinear kinetics can be influenced by a diverse range of transporter proteins that serve as crucial players in drug distribution. These transporters, found within cells, can enhance or reduce local drug concentrations by facilitating the influx or efflux of drugs. For instance, the expression of xenobiotic transporters can be influenced by factors such as age and gender, potentially impacting the linearity of drug response.
Polymorphisms occurring in drug transporters can alter...
Polymorphisms occurring in drug transporters can alter...