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Related Concept Videos

Synthesis and Regulation of Thyroid Hormones01:20

Synthesis and Regulation of Thyroid Hormones

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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...
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Functions of Thyroid Hormones01:18

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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...
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The thyroid gland is a small, butterfly-shaped gland located in the neck and covers the anterior surface of the trachea. The gland has two lateral lobes connected by a thin tissue mass called the isthmus. Internally, each lobe comprises many small spherical structures known as thyroid follicles, surrounded by a network of blood vessels.
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Genome-wide Association Studies-GWAS01:11

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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.
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General Transcription Factors01:30

General Transcription Factors

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Transducer Mechanism: Nuclear Receptors01:31

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Nuclear receptors, or NRs, are unique transcription factors that regulate gene transcription and affect the cellular pathways involved in reproduction, development, or metabolism. Their ability to be stimulated by small lipophilic ligands and control vital cellular processes makes them ideal drug targets. Nearly 10-15% of currently prescribed drugs target these receptors.
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Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
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Transcriptome-wide association study identifies multiple genes and pathways associated with thyroid function.

Xin Ke1, Xin Tian2, Shi Yao3

  • 1Key Laboratory of Biomedical Information Engineering of Ministry of Education, Biomedical Informatics & Genomics Center, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, Shaanxi, PR China, 710049.

Human Molecular Genetics
|December 28, 2021
PubMed
Summary
This summary is machine-generated.

This study used transcriptome-wide association studies to identify novel genes influencing thyroid function, discovering 74 significant genes and pathways. Two novel genes, MFSD6 and RBM47, were identified, offering new insights into thyroid disease genetics.

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Area of Science:

  • Genetics
  • Endocrinology
  • Bioinformatics

Background:

  • Thyroid dysfunction is a common endocrine disorder.
  • Genome-wide association studies (GWASs) have identified over 70 genetic loci for thyroid-stimulating hormone (TSH) levels.
  • Existing GWAS findings explain only a small portion of thyroid function heritability.

Purpose of the Study:

  • To identify novel candidate genes associated with thyroid function.
  • To leverage transcriptome-wide association studies (TWAS) for a comprehensive analysis of thyroid function genetics.
  • To validate identified genes and explore associated biological pathways.

Main Methods:

  • Conducted a large-scale TWAS for TSH levels using GWAS summary data from up to 119,715 individuals.
  • Integrated gene expression data from six panels across four tissue types.
  • Validated candidate genes through TWAS replication (UK Biobank) and differential gene expression analyses.

Main Results:

  • Identified 74 conditionally independent genes significantly associated with thyroid function, including PDE8B, PDE10A, NR3C2, and CAPZB.
  • Replicated 26 genes in UK Biobank data, with 16 identified as potentially causal for thyroid-related traits.
  • Discovered two novel genes, MFSD6 and RBM47, not previously implicated in GWASs for thyroid function.
  • Detected enrichment in pathways such as cAMP signaling, hemostasis, and platelet activation.

Conclusions:

  • The TWAS approach successfully identified numerous candidate genes and biological pathways linked to thyroid function.
  • Findings provide novel insights into the genetic underpinnings of thyroid function and related diseases.
  • The study highlights the potential of integrating GWAS and gene expression data for genetic discovery.