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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

2.4K
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
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Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

45
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...
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Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

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Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
35
Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

23
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...
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Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

75
Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular...
75

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Related Experiment Video

Updated: May 4, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
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Genetics of autoimmunity: an update.

Rosa Sorrentino1

  • 1Department of Biology and Biotechnology "Charles Darwin" and Istituto Pasteur-Cenci Bolognetti, Sapienza University, Rome, Italy.

Immunology Letters
|December 28, 2013
PubMed
Summary

Genome-wide association studies (GWAS) identify immune disease variants, but "missing heritability" remains. New research explores gene interactions, pathways, and epigenetics to understand complex immune disorders.

Area of Science:

  • Immunology
  • Genetics
  • Computational Biology

Background:

  • Genome-wide association studies (GWAS) have identified numerous genetic variants linked to immune-mediated diseases.
  • These variants typically confer small individual risks, collectively explaining only a fraction of disease heritability.
  • Many identified variants reside in regions with unknown functional roles, highlighting the
  • missing heritability" problem.

Purpose of the Study:

  • To explore potential explanations for the "missing heritability" in immune-mediated diseases.
  • To investigate the role of gene-gene interactions and biochemical pathways in disease pathogenesis.
  • To leverage advanced technologies like immunochip analysis and epigenetic studies for deeper insights.

Main Methods:

Keywords:
AutoimmunityGeneticsPolymorphisms

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  • Analysis of genetic variants identified through genome-wide association studies (GWAS).
  • Application of immunochip analysis for large-scale variation screening in immune/inflammatory functions.
  • Investigation of epigenetic modifications influencing gene expression in immune cells and tissues.

Main Results:

  • Identification of disease-specific and shared variants across different immune-mediated diseases.
  • Emerging evidence suggests gene-gene interactions and pathway effects contribute to heritability.
  • Immunochip analysis facilitates the discovery of shared pathways across diseases.
  • Epigenetic modifications show potential in modulating gene expression relevant to immune function.

Conclusions:

  • Understanding the genetic architecture of immune-mediated diseases requires exploring beyond individual variants.
  • Gene interactions, biochemical pathways, and epigenetic factors are crucial for explaining disease heritability.
  • Advanced genomic and epigenomic approaches are vital for unraveling complex immune disease genetics.