Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature

Eur J Hum Genet. 2018 Jun;26(6):765-777. doi: 10.1038/s41431-018-0104-8. Epub 2018 Feb 23.


The interplay between genetic and environmental factors is likely involved in the pathogenesis of systemic sclerosis (SSc). Interstitial lung disease associated in the context of SSc (SSc-ILD) is associated with significant morbidity, and is the leading cause of death in SSc. The spectrum of SSc-ILD severity is wide, ranging from patients with only limited and inherently stable pulmonary involvement, to those with extensive and progressive pulmonary fibrosis. In order to provide accurate prognostic information for patients, and to initiate appropriate monitoring and treatment regimens, the ability to identify patients at risk of developing severe ILD early in the disease course is crucial. Identification of genetic variants involved in disease pathogenesis can not only potentially provide diagnostic/prognostic markers, but can also highlight dysregulated molecular pathways for therapeutic targeting. A number of genetic associations have been established for susceptibility to SSc, but far fewer studies have investigated genetic susceptibility to SSc-ILD specifically. In this review we present a summary of the studies assessing genetic associations with SSc-ILD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • HLA-A Antigens / genetics*
  • Humans
  • Lung Diseases, Interstitial / complications
  • Lung Diseases, Interstitial / epidemiology
  • Lung Diseases, Interstitial / genetics*
  • Lung Diseases, Interstitial / physiopathology
  • Scleroderma, Systemic / complications
  • Scleroderma, Systemic / epidemiology
  • Scleroderma, Systemic / genetics*
  • Scleroderma, Systemic / physiopathology
  • Severity of Illness Index


  • HLA-A Antigens