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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.
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Related Experiment Video

Updated: May 30, 2026

Single-cell Gene Expression Using Multiplex RT-qPCR to Characterize Heterogeneity of Rare Lymphoid Populations
10:23

Single-cell Gene Expression Using Multiplex RT-qPCR to Characterize Heterogeneity of Rare Lymphoid Populations

Published on: January 19, 2017

Capturing the heterogeneity in systemic sclerosis with genome-wide expression profiling.

Jennifer L Sargent1, Michael L Whitfield

  • 1Department of Genetics, Dartmouth Medical School, Hanover, NH 03755, USA.

Expert Review of Clinical Immunology
|July 28, 2011
PubMed
Summary

Systemic sclerosis (SSc) shows significant heterogeneity, impacting treatment development. Gene expression studies reveal distinct disease signatures in SSc skin, blood, and lungs, offering insights into pathogenesis.

Related Experiment Videos

Last Updated: May 30, 2026

Single-cell Gene Expression Using Multiplex RT-qPCR to Characterize Heterogeneity of Rare Lymphoid Populations
10:23

Single-cell Gene Expression Using Multiplex RT-qPCR to Characterize Heterogeneity of Rare Lymphoid Populations

Published on: January 19, 2017

Area of Science:

  • Immunology
  • Genomics
  • Rheumatology

Background:

  • Systemic sclerosis (SSc) presents with significant clinical and basic science heterogeneity, complicating pathogenesis research and therapeutic development.
  • Genome-wide profiling has been employed to investigate this heterogeneity in SSc.
  • Previous studies have identified disease-specific gene expression signatures in SSc.

Purpose of the Study:

  • To analyze gene expression profiles in systemic sclerosis (SSc) to understand disease heterogeneity.
  • To identify disease-specific gene expression signatures in affected tissues and peripheral cells.
  • To explore the contribution of individual pathways to SSc etiology through hypothesis-driven approaches.

Main Methods:

  • Genome-wide gene expression profiling of SSc patient samples.
  • Comparison of gene expression in lesional and non-lesional skin of SSc patients versus healthy controls.
  • Analysis of gene expression in peripheral blood cells and lung tissue from SSc patients.

Main Results:

  • Reproducible, disease-specific gene expression signatures were identified in the skin of diffuse SSc patients.
  • These SSc-specific gene expression patterns were observed in both lesional and non-lesional skin.
  • Disease-specific gene expression was also demonstrated in peripheral blood cells and lung tissue of SSc patients.

Conclusions:

  • Gene expression profiling effectively captures the heterogeneity of systemic sclerosis.
  • Distinct molecular signatures exist across different tissues in SSc, providing insights into pathogenesis.
  • Understanding these gene expression subsets through pathway analysis can inform future therapeutic strategies for SSc.