Related Experiment Video
Updated: Jun 25, 2025
16:02
Demonstration of the Sequence Alignment to Predict Across Species Susceptibility Tool for Rapid Assessment of Protein Conservation
Published on: February 10, 2023
2.7K
New insights into the hypothalamic-pituitary-thyroid axis: a transcriptome- and proteome-wide association study
Sara Monteiro-Martins1, Rosalie B T M Sterenborg2,3, Oleg Borisov1
1Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center - University of Freiburg, Freiburg, Germany.
European Thyroid Journal
|May 28, 2024
Summary
This study used genetic data to identify new genes and proteins linked to thyroid hormones, thyrotropin (TSH), and free thyroxine (FT4). Findings enhance understanding of thyroid function regulation.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Thyroid hormones are crucial for human health, impacting nearly all tissues.
- Thyroid hormone regulation involves the hypothalamic-pituitary-thyroid (HPT) axis and has a genetic basis.
Purpose of the Study:
- To identify gene products associated with thyrotropin (TSH) and free thyroxine (FT4) levels using genetic information.
- To elucidate the genetic underpinnings of thyroid function through advanced association studies.
Main Methods:
- Tissue-specific transcriptome-wide association studies (TWAS) were employed to analyze gene expression.
- Plasma proteome-wide association studies (PWAS) were utilized to examine protein levels.
- Genetic colocalization analyses were performed to assess shared genetic influences.
Main Results:
- TWAS identified hundreds of transcripts linked to TSH and FT4, surpassing traditional GWAS power.
- PWAS revealed multiple proteins associated with TSH and FT4, including HEXIM1 and QSOX2.
- Significant overlap was found between TWAS and PWAS results, with ANXA5 expression and levels inversely associated with TSH.
Conclusions:
- The study identified novel genes and prioritized candidates within known loci related to thyroid function.
- These findings contribute to a deeper understanding of transcriptional and protein-level regulation of thyroid hormones.
- The research highlights the utility of TWAS and PWAS in uncovering genetic associations for complex traits.
Related Concept Videos
01:20Synthesis and Regulation of Thyroid Hormones
4.5K
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...
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...
4.5K
01:37Hypothalamic-Pituitary Axis
59.9K
The response to stress—be it physical or psychological, acute or chronic—involves activation of the Hypothalamic-Pituitary-Adrenal (HPA) axis. The HPA axis is part of the neuroendocrine system because it involves both neuronal and hormonal communication. Its function is to regulate homeostatic systems—metabolic, cardiovascular, and immune—providing the necessary means to respond to a stressor.
59.9K
01:18Functions of Thyroid Hormones
2.7K
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...
2.7K
01:19Regulation of Hormone Secretion
3.4K
Regulation of hormone secretion is a finely tuned orchestration driven by various types of stimuli, encompassing neural, humoral, and hormonal signals. Environmental cues instigate neural stimuli, where action potentials traverse nerve fibers to reach their designated targets. An illustrative scenario is the body's response to stress, wherein the sympathetic nervous system releases epinephrine from the adrenal glands, inducing the well-known 'fight or flight' reaction.
Humoral...
Humoral...
3.4K
01:11Genome-wide Association Studies-GWAS
13.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.3K
01:22Target Cell Response to Hormones
3.0K
Hormones intricately bind to receptors on the surface or within target cells, initiating a cascade of cellular responses.
Notably, the cellular response can be regulated by altering the number of receptors expressed in the cell. For example, prolonged exposure to elevated hormone levels results in a gradual decline or down-regulation in the number of receptors for that specific hormone on the cell surface. Conversely, in response to low hormone levels, cells may use up-regulation, producing an...
Notably, the cellular response can be regulated by altering the number of receptors expressed in the cell. For example, prolonged exposure to elevated hormone levels results in a gradual decline or down-regulation in the number of receptors for that specific hormone on the cell surface. Conversely, in response to low hormone levels, cells may use up-regulation, producing an...
3.0K