Genetics, Epigenetics, and Genomics of Systemic Sclerosis

Abstract

Systemic sclerosis (SSc) is a complex autoimmune disease that occurs in a genetically susceptible host. Genetic studies performed so far reveal that multiple genetic loci contribute to disease susceptibility in SSc. The purpose of this review is to discuss the current knowledge of genetics in SSc by exploring the observational evidence, the different genetic studies, and their modalities as well as the most relevant genes discovered by these. The importance of gene expression variation and the different mechanisms that govern it, including the recently discovered field of epigenetics, are also explored, with an emphasis on microRNA.

Keywords: Epigenetics; Gene expression; Genetics; Scleroderma; Splicing; Systemic sclerosis; miRNA; microRNA.