Genetic and epigenetic abnormalities in systemic sclerosis

Systemic sclerosis (SSc) is a complicated autoimmune and connective tissue disease, of which the pathogenesis and treatment have not been fully elucidated. SSc patients may have a genetic predisposition, such as specific human leukocyte antigens and single nucleotide polymorphisms, but can also develop various clinical symptoms with individual differences. Epigenetics, such as DNA methylation, histone modification, long non-coding RNA and miRNA, could explain the crossroad between genetics and environmental factors. For instance, epigenetics is associated with environmental factors, which may cause the breakdown of immune tolerance and the development of SSc in patients with a particular genetic background. In the future, further investigations of the interplay between genetics and epigenetics will be beneficial to elucidate the complex molecular cross-talk and heterogeneity in the SSc pathogenesis. Furthermore, this research will lead to the discovery of new therapeutic approaches and biomarkers.