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Related Concept Videos

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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Autoimmune Disorders01:29

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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.
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Related Experiment Video

Updated: Sep 30, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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The Immunogenetics of Systemic Sclerosis.

Begüm Ünlü1, Ümit Türsen2, Zeynab Rajabi3

  • 1Department of Dermatology, Mersin University, Mersin, Turkey.

Advances in Experimental Medicine and Biology
|March 14, 2022
PubMed
Summary

Genetic and environmental factors contribute to Systemic Sclerosis (SSc). This review details genes linked to SSc susceptibility, including immune response and fibrogenesis pathways, highlighting inheritance as a key risk factor.

Keywords:
FibrosisGenetic polymorphismsImmunogeneticsSusceptibilitySystemic sclerosis

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Area of Science:

  • Immunogenetics
  • Rheumatology
  • Autoimmune Diseases

Background:

  • Systemic sclerosis (SSc) is a rare autoimmune disease with complex etiology.
  • Both genetic predisposition and environmental factors are implicated in SSc pathogenesis.
  • While familial incidence is low, genetic factors represent the strongest risk for SSc.

Purpose of the Study:

  • To comprehensively review genes associated with Systemic Sclerosis susceptibility.
  • To categorize these genes based on their roles in SSc pathogenesis.
  • To discuss the contribution of specific gene groups to disease development.

Main Methods:

  • Review of existing literature on SSc genetics.
  • Analysis of candidate gene association studies.
  • Examination of genome-wide association analyses.

Main Results:

  • Variations in genes encoding cytokines, adhesion molecules, and signaling proteins are linked to SSc.
  • Identified gene groups include HLA, innate and adaptive immune response genes, fibrogenesis pathways, and cell death-related genes.
  • These genetic factors influence interactions between endothelial cells, fibroblasts, and immune cells.

Conclusions:

  • Genetic factors play a crucial role in Systemic Sclerosis pathogenesis.
  • Understanding these genes provides insights into SSc development and potential therapeutic targets.
  • Further research into gene-environment interactions is warranted.