Related Experiment Video
Updated: May 29, 2026
04:44
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Local genetic correlations between systemic sclerosis and common cancer types
Karina Patasova1,2,3, Weng Ian Che4, Helga Westerlind5
1Center for Molecular Medicine, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
Plos One
|May 27, 2026
Summary
Systemic sclerosis (SSc) patients have higher cancer incidence. This study found a specific genetic overlap (pleiotropy) between SSc and lung cancer, suggesting shared biological pathways.
Area of Science:
- Genetics
- Oncology
- Rheumatology
Background:
- Systemic sclerosis (SSc) is linked to increased cancer risk.
- Previous genetic studies overlooked locus-specific associations between SSc and cancer.
- Local genetic correlation analysis is needed to identify fine-scaled genetic overlap.
Purpose of the Study:
- To investigate the fine-scaled genetic overlap between systemic sclerosis (SSc) and common cancers.
- To identify locus-specific genetic correlations and pleiotropy between SSc and breast cancer, lung cancer, and hematologic malignancies.
Main Methods:
- Assessed genetic relationships using genome-wide association study statistics.
- Employed linkage disequilibrium score regression and Local Analysis of [co]Variant Annotation for correlation analysis.
- Utilized gene-based meta-analysis, colocalization, and fine-mapping to detect pleiotropy.
Main Results:
- No significant global genetic correlation was found between SSc and analyzed cancer subtypes.
- Identified 23 significant local bivariate correlations, with 21 involving breast cancer subtypes.
- A shared locus between SSc and lung cancer demonstrated strong evidence of pleiotropy.
Conclusions:
- A pleiotropic locus was identified between systemic sclerosis (SSc) and lung cancer.
- This finding highlights potential shared pathobiological mechanisms.
- Identified genes within the shared locus offer candidates for future research.
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