2. Academic Validation
  3. Genetic factors and systemic sclerosis

Genetic factors and systemic sclerosis

  • Autoimmun Rev. 2016 May;15(5):427-32. doi: 10.1016/j.autrev.2016.01.016.
Giuseppe Murdaca 1,  Miriam Contatore 2,  Rossella Gulli 3,  Paola Mandich 3,  Francesco Puppo 2
Affiliations

Affiliations

  • 1 Departments of Internal Medicine, Scleroderma Unit, Clinical Immunology Unit, University of Genova, Genova, Italy. Electronic address: [email protected].
  • 2 Departments of Internal Medicine, Scleroderma Unit, Clinical Immunology Unit, University of Genova, Genova, Italy.
  • 3 Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, Section of Medical Genetics, University of Genova, Genova, Italy.
PMID: 26826434 DOI: 10.1016/j.autrev.2016.01.016
Abstract

Systemic sclerosis (SSc) is a rare connective tissue disease of unknown etiology characterized by chronic inflammation and fibrosis of the skin, vascular abnormalities, and variable involvement of organs including kidneys, gastrointestinal tract, heart, and lungs. SSc shows a complex etiology in which both environmental and genetic factors seem to influence the onset and outcome of the disease. We provide an extensive overview of the genetic factors and epigenetic modifications and what their knowledge has revealed in terms of etiopathogenesis of SSc.

Keywords

Epigenetics; Genetic factors; Polymorphisms; Systemic sclerosis.

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