Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance

Current Rheumatology Reports
Benjamin D Korman, Lindsey A Criswell

Abstract

Significant advances have been made in understanding the genetic basis of systemic sclerosis (SSc) in recent years. Genomewide association and other large-scale genetic studies have identified 30 largely immunity-related genes which are significantly associated with SSc. We review these studies, along with genomewide expression studies, proteomic studies, genetic mouse models, and insights from rare sclerodermatous diseases. Collectively, these studies have begun to identify pathways that are relevant to SSc pathogenesis. The findings presented in this review illustrate how both genetic and genomic aberrations play important roles in the development of SSc. However, despite these recent discoveries, there remain major gaps between current knowledge of SSc, a unified understanding of pathogenesis, and effective treatment. To this aim, we address the important issue of SSc heterogeneity and discuss how future research needs to address this in order to develop a clearer understanding of this devastating and complex disease.

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Citations

Oct 4, 2015·Genomics, Proteomics & Bioinformatics·Quan-Zhen Li, Edward K Wakeland
Jul 15, 2015·Seminars in Immunopathology·Alsya J AffandiWioleta Marut
Dec 3, 2016·Nature Reviews. Rheumatology·Fatemeh Navid, Robert A Colbert
Sep 1, 2015·Current Opinion in Rheumatology·Paula S RamosCarol A Feghali-Bostwick
Sep 28, 2017·Pediatric Rheumatology Online Journal·Abdelali ZrhidriAbdelaziz Sefiani
Nov 8, 2018·Journal of Immunology Research·Rambon Shamilov, Brian J Aneskievich
Jul 19, 2020·International Journal of Molecular Sciences·Antonello GiovannettiSebastiano Gangemi
Jun 12, 2020·Therapeutic Advances in Musculoskeletal Disease·Bianca Saveria FiorettoMarco Matucci-Cerinic
Jun 3, 2021·Journal of Clinical Medicine·Kuang-Tsu YangHsin-Hua Chen

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Methods Mentioned

BETA
genotyping
biopsies
biopsy

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