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Related Concept Videos

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 in...
Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...

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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Genetic susceptibility to Grave's disease.

Hong Li1, Qiuying Chen

  • 1Department of Endocrinology, Long Hua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai,China. shanhongli2012@yeah.net

Frontiers in Bioscience (Landmark Edition)
|June 11, 2013
PubMed
Summary

Genetic factors and environmental influences like smoking may impact Graves' ophthalmopathy (GO) severity. Research is exploring key susceptibility genes, including immunological and thyroid-specific genes, for Graves' disease (GD).

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Area of Science:

  • Endocrinology
  • Genetics
  • Ophthalmology

Background:

  • Graves' disease (GD) presents with varied eye changes, indicating complex factors influence Graves' ophthalmopathy (GO) severity.
  • Genetic and environmental factors, such as smoking, are suspected contributors to GO development.
  • The precise role of genetic factors in GO pathogenesis remains under investigation.

Purpose of the Study:

  • To review current knowledge on major susceptibility genes associated with Graves' disease (GD).
  • To explore the influence of genetic and environmental factors on the development and severity of Graves' ophthalmopathy (GO).

Main Methods:

  • Review of candidate gene studies and other genetic approaches.
  • Analysis of proposed susceptibility loci for Graves' ophthalmopathy (GO).

Main Results:

  • Several susceptibility loci for GO have been identified.
  • These include immunological genes, human leukocyte antigen (HLA), cytotoxic T-lymphocyte antigen-4 (CTLA-4), regulatory T-cell genes, and thyroid-specific genes.

Conclusions:

  • Genetic factors play a significant role in the susceptibility to Graves' ophthalmopathy (GO).
  • Further research into these genetic factors is crucial for understanding GD and developing targeted therapies.