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Related Experiment Video

Updated: May 30, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Deciphering the genetic background of systemic sclerosis.

Jasper C A Broen¹, Marieke J H Coenen, Timothy R D J Radstake

¹Department of Rheumatology, Radboud University Medical Centre, Nijmegen, The Netherlands.

Expert Review of Clinical Immunology

|July 28, 2011

Summary

Genetic factors significantly influence systemic sclerosis (SSc) susceptibility. This review covers family studies, HLA region, and genome-wide association studies in SSc genetics research.

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Last Updated: May 30, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Area of Science:

Immunogenetics
Rheumatology
Human Genetics

Background:

Systemic sclerosis (SSc) is a severe autoimmune connective tissue disease with increasing evidence for a genetic basis.
Understanding the genetic underpinnings of SSc is crucial for identifying at-risk individuals and developing targeted therapies.

Purpose of the Study:

To provide a comprehensive overview of the genetic factors contributing to SSc susceptibility.
To review key areas of SSc genetics research, including family studies, chromosomal abnormalities, HLA region involvement, candidate genes, and genome-wide association studies (GWAS).

Main Methods:

Literature review of genetic studies in Systemic Sclerosis.
Analysis of family studies, cytogenetic data, and HLA region associations.
Examination of candidate gene studies and genome-wide association studies (GWAS) in SSc.

Main Results:

Accumulating evidence strongly supports a significant genetic component in SSc susceptibility.
The Human Leukocyte Antigen (HLA) region and various other candidate genes have been implicated in SSc pathogenesis.
Genome-wide association studies (GWAS) have identified novel genetic loci associated with SSc risk.

Conclusions:

Genetics plays a pivotal role in the susceptibility to Systemic Sclerosis.
Further genetic research in SSc is essential for advancing our understanding of disease mechanisms and improving patient outcomes.