Deciphering the genetic background of systemic sclerosis

Expert Rev Clin Immunol. 2011 Jul;7(4):449-62. doi: 10.1586/eci.11.26.

Abstract

Systemic sclerosis (SSc) is a severe autoimmune connective tissue disease. Over the years, evidence for a genetic background of SSc susceptibility has clearly accumulated. This article aims to provide an extensive overview of genetics in SSc research. We discuss indicators for a genetic component present in SSc, family studies, chromosomal aberrances, the involvement of the HLA region and multiple candidate genes and, finally, genome-wide association studies.

Publication types

  • Review

MeSH terms

  • Animals
  • B-Lymphocytes / immunology*
  • Chromosome Aberrations
  • Databases, Genetic / trends
  • Genetic Predisposition to Disease
  • Genetic Testing / trends
  • Genome-Wide Association Study
  • HLA Antigens / genetics
  • Humans
  • Interferon Regulatory Factors / genetics
  • Interferon Regulatory Factors / metabolism
  • Polymorphism, Genetic
  • STAT4 Transcription Factor / genetics
  • STAT4 Transcription Factor / metabolism
  • Scleroderma, Systemic* / genetics
  • Scleroderma, Systemic* / immunology
  • Th17 Cells / immunology*

Substances

  • HLA Antigens
  • IRF5 protein, human
  • Interferon Regulatory Factors
  • STAT4 Transcription Factor