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Related Experiment Videos

Systemic sclerosis: the susceptible host (genetics and environment).

Filemon K Tan1

  • 1Division of Rheumatology, University of Texas Houston Medical School, 6431 Fannin Street, Houston, TX 77030, USA. filemon.k.tan@uth.tmc.edu

Rheumatic Diseases Clinics of North America
|July 5, 2003
PubMed
Summary

Genetic factors influence systemic sclerosis (SSc) susceptibility and manifestations, with complex gene-environment interactions shaping disease. Research requires integrated approaches to understand genetic contributions to SSc.

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Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.

American journal of human genetics·2014

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Systemic sclerosis (SSc) susceptibility and clinical features are modulated by multiple genetic factors.
  • Genes influencing extracellular matrix (ECM) metabolism and vascular function, as well as immune tolerance, play roles in SSc and other autoimmune diseases.
  • Individual genetic variations typically have modest effects on disease risk, necessitating the study of multiple genes.

Purpose of the Study:

  • To review the genetic factors influencing susceptibility and clinical manifestations of SSc.
  • To discuss the challenges and alternative approaches in SSc genetic research, including phenotype heterogeneity and low prevalence.
  • To highlight the need for integrated genetic and environmental research paradigms.

Main Methods:

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  • Review of existing literature on genetic studies in SSc.
  • Discussion of allelic association studies, including case-control designs and family-based controls (e.g., transmission-disequilibrium test).
  • Emphasis on the importance of identifying candidate genes, precise phenotype definition, and accounting for population stratification.

    • Main Results:

    • Genetic variations in ECM metabolism, vascular function, and immune tolerance are implicated in SSc.
    • Allelic association studies are valuable but require large sample sizes and careful design to mitigate bias.
    • Simultaneous examination of multiple relevant genes can increase aggregate odds ratios for disease risk.
    • Family-based controls offer robustness against population stratification but are less efficient than case-control designs.

    Conclusions:

    • Understanding SSc pathogenesis requires unraveling complex interactions between genetic variations and environmental factors.
    • Future research should focus on multi-center collaborations integrating genetic and environmental data.
    • Elucidating the transition from genotype to clinical phenotype in SSc remains a significant challenge.