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Related Concept Videos

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...
Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Autoimmune Disorders

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Related Experiment Video

Updated: Jun 8, 2026

The bm12 Inducible Model of Systemic Lupus Erythematosus (SLE) in C57BL/6 Mice
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The bm12 Inducible Model of Systemic Lupus Erythematosus (SLE) in C57BL/6 Mice

Published on: November 1, 2015

Immunogenetics of systemic sclerosis.

P Dieudé1, C Boileau, Y Allanore

  • 1Université Paris Diderot, Service de Rhumatologie, Hôpital Bichat Claude Bernard, APHP, Paris, France.

Autoimmunity Reviews
|September 25, 2010
PubMed
Summary
This summary is machine-generated.

Genetic studies reveal shared autoimmune predispositions and identify key immune system genes like PTPN22 and IRF5 linked to systemic sclerosis (SSc). Further research into gene interactions and environmental factors is crucial for developing effective therapies.

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Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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The bm12 Inducible Model of Systemic Lupus Erythematosus (SLE) in C57BL/6 Mice
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Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Systemic Sclerosis (SSc) research

Background:

  • Systemic sclerosis (SSc) genetics is a rapidly advancing field with significant data production.
  • Existing research suggests a shared genetic background for multiple autoimmune diseases.
  • The genetic architecture of SSc involves multiple genes with modest individual associations.

Purpose of the Study:

  • To summarize current themes in SSc genetic research.
  • To highlight identified SSc susceptibility genes.
  • To emphasize the need for further gene-gene and gene-environment interaction studies for therapeutic development.

Main Methods:

  • Review of candidate gene studies in SSc genetics.
  • Analysis of genetic variants associated with autoimmune diseases.
  • Focus on genes involved in innate and adaptive immunity.

Main Results:

  • Identification of shared genetic variants predisposing to multiple autoimmune diseases.
  • Confirmation of several SSc susceptibility genes, including MHC, PTPN22, IRF5, STAT4, C8orf13-BLK, BANK1, and TNFSF4.
  • Causative genetic variations remain largely unidentified for SSc.

Conclusions:

  • Significant progress has been made in understanding SSc pathogenesis through genetic discoveries.
  • Genes involved in innate and adaptive immunity are strongly associated with SSc susceptibility.
  • Future research focusing on gene-gene and gene-environment interactions is essential for developing novel therapies for SSc.