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Related Experiment Video

Updated: May 29, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

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 Patasova^1,2,3, Weng Ian Che⁴, Helga Westerlind⁵

¹Center for Molecular Medicine, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.

|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.

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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.