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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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Skin Diseases and Disorders01:23

Skin Diseases and Disorders

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Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
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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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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

157
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...
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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...
23
Alternative RNA Splicing02:18

Alternative RNA Splicing

20.5K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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Related Experiment Video

Updated: Apr 30, 2026

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
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Rare variants and autoimmune disease.

Jonathan Massey, Steve Eyre

    Briefings in Functional Genomics
    |May 13, 2014
    PubMed
    Summary

    Investigating rare genetic variants in autoimmune diseases provides insights into complex conditions. While early studies showed promise, recent large-scale analyses have yielded mixed results, highlighting the need for advanced sequencing techniques.

    Area of Science:

    • Genetics
    • Immunology
    • Pathology

    Background:

    • Rare variants in monogenic autoimmune diseases offer insights into complex pathologies.
    • Early research on complex autoimmune diseases focused on candidate gene sequencing, with some success in Type 1 diabetes mellitus.
    • Replication of early findings has been challenging, with recent studies failing to identify associated rare variants across multiple autoimmune diseases.

    Purpose of the Study:

    • To explore the role of rare and low-frequency genetic variation in autoimmune diseases.
    • To leverage advancements in sequencing technologies for identifying disease-associated variants.
    • To understand the contribution of rare coding and regulatory variants to autoimmune disease susceptibility, severity, and treatment response.

    Main Methods:

    Keywords:
    autoimmunitycomplex diseaseimmunochiplow-frequency variantsrare variants

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  • Utilizing custom genotyping arrays (Immunochip, Exome arrays) to study rare and low-frequency variants.
  • Employing whole-exome sequencing to identify rare coding variants.
  • Applying other advanced sequencing strategies to uncover regulatory rare variation.

    • Main Results:

    • Early successes in identifying low-frequency variants associated with Type 1 diabetes mellitus.
    • Difficulties in replicating initial findings for other autoimmune diseases.
    • Recent large-scale studies re-sequencing 25 autoimmune disease-associated genes did not find associated rare variants.

    Conclusions:

    • The study of rare variants remains crucial for understanding autoimmune disease aetiology.
    • Technological advancements like whole-exome sequencing are enhancing the discovery of rare coding and regulatory variants.
    • Further research is needed to fully elucidate the contribution of rare genetic variation to complex autoimmune diseases.