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Genetic factors and systemic sclerosis.

Giuseppe Murdaca1, Miriam Contatore1, Rossella Gulli2

  • 1Departments of Internal Medicine, Scleroderma Unit, Clinical Immunology Unit, University of Genova, Genova, Italy.

Autoimmunity Reviews
|January 31, 2016
PubMed
Summary
This summary is machine-generated.

Systemic sclerosis (SSc) is a rare autoimmune disease. This study overviews genetic and epigenetic factors contributing to SSc

Keywords:
EpigeneticsGenetic factorsPolymorphismsSystemic sclerosis

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Area of Science:

  • Rheumatology and Immunology
  • Genetics and Epigenetics
  • Autoimmune Diseases

Background:

  • Systemic sclerosis (SSc) is a rare, complex autoimmune disease.
  • It involves chronic inflammation, fibrosis, and vascular issues.
  • Organ involvement (kidneys, lungs, heart, GI tract) is variable.

Purpose of the Study:

  • To provide an extensive overview of genetic factors in SSc.
  • To explore epigenetic modifications in SSc pathogenesis.
  • To elucidate the role of these factors in disease development.

Main Methods:

  • Literature review of genetic association studies.
  • Analysis of epigenetic research in SSc.
  • Synthesis of current knowledge on SSc etiopathogenesis.

Main Results:

  • Identified key genetic factors influencing SSc onset and outcome.
  • Highlighted the role of epigenetic modifications in disease mechanisms.
  • Demonstrated the interplay between genetic and environmental factors.

Conclusions:

  • Genetic and epigenetic factors are crucial in SSc development.
  • Understanding these factors advances knowledge of SSc etiopathogenesis.
  • Further research can target these pathways for therapeutic strategies.