Recent Advances in the Genetics of Systemic Sclerosis: Toward Biological and Clinical Significance

Benjamin D. Korman, Lindsey A. Criswell*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations


Significant advances have been made in understanding the genetic basis of systemic sclerosis (SSc) in recent years. Genomewide association and other large-scale genetic studies have identified 30 largely immunity-related genes which are significantly associated with SSc. We review these studies, along with genomewide expression studies, proteomic studies, genetic mouse models, and insights from rare sclerodermatous diseases. Collectively, these studies have begun to identify pathways that are relevant to SSc pathogenesis. The findings presented in this review illustrate how both genetic and genomic aberrations play important roles in the development of SSc. However, despite these recent discoveries, there remain major gaps between current knowledge of SSc, a unified understanding of pathogenesis, and effective treatment. To this aim, we address the important issue of SSc heterogeneity and discuss how future research needs to address this in order to develop a clearer understanding of this devastating and complex disease.

Original languageEnglish (US)
Pages (from-to)1-11
Number of pages11
JournalCurrent rheumatology reports
Issue number3
StatePublished - Mar 2015


  • Autoimmune disease
  • Genetics
  • Genomics
  • Heterogeneity
  • Mouse models
  • Scleroderma
  • Single nucleotide polymorphisms
  • Systemic sclerosis

ASJC Scopus subject areas

  • Rheumatology


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