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Review
. 2024 Dec;38(4):101981.
doi: 10.1016/j.berh.2024.101981. Epub 2024 Jul 26.

Insights into the genetic landscape of systemic sclerosis

Ali El-Halwagi  1 , Sandeep K Agarwal  2
Affiliations
Review

Insights into the genetic landscape of systemic sclerosis

Ali El-Halwagi et al. Best Pract Res Clin Rheumatol. 2024 Dec.

Abstract

Systemic sclerosis (SSc) is a complex autoimmune disease that clinically manifests as progressive fibrosis of the skin and internal organs. Autoimmunity and endothelial dysfunction play important roles in the development of SSc but the causes of SSc remain unknown. Accumulating evidence, first from familial aggregation studies and subsequently from candidate gene association studies and genome wide association studies underscore the crucial contributions of genetics to the development of SSc. The identification of polymorphisms in the HLA region as well as non-HLA loci is important for understanding the risks of developing SSc but can also provide important pathogenic insight in SSc. While not translating into clinic practice yet, understanding the genetic landscape of SSc will hopefully assist in the diagnosis and management of patients with and/or at risk of developing SSc in the future. Herein we review the studies that investigate genetic risks of SSc susceptibility.

Keywords: Genetic; Genome wide association studies; Polymorphism; Systemic sclerosis.

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Conflict of interest statement

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests:Sandeep K Agarwal reports financial support was provided by National Institute of Arthritis and Musculoskeletal and Skin Diseases. Sandeep K. Agarwal has patent #Methods and compositions for treatment of fibrosis, 10112933 licensed to Tvardi Therapuetics. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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