Available online 6 August 2022, 101648

With the increasing armamentarium of high-throughput tools available at manageable cost, it is attractive and informative to determine the molecular underpinnings of patient heterogeneity in systemic sclerosis (SSc). Given the highly variable clinical outcomes of patients labelled with the same diagnosis, unravelling the cellular and molecular basis of disease heterogeneity will be crucial to predicting disease risk, stratifying management and ultimately informing a patient-centered precision medicine approach. Herein, we summarise the findings of the past several years in the fields of genomics, transcriptomics, and proteomics that contribute to unraveling the cellular and molecular heterogeneity of SSc. Expansion of these findings and their routine integration with quantitative analysis of histopathology and imaging studies into clinical care promise to inform a scientifically driven patient-centred personalized medicine approach to SSc in the near future.

Genome-wide association studies

Single nucleotide polymorphism

Medical subject heading

Penotype-genotype Integrator

National Center for Biotechnology

Phenome-wide Association Study

modified Rodnan skin score

Transforming Growth Factor-beta

Transforming Growth Factor Receptor beta

plasmacytoid dendritic cell

interstitial lung disease

idiopathic pulmonary fibrosis

enhanced liver fibrosis

digital artery volume index

European Scleroderma Trials and Research

© 2022 Published by Elsevier Ltd.