The role of genetics and epigenetics in the pathogenesis of systemic sclerosis

Author: Jasper C. A. Broen, Timothy R. D. J. Radstake & Marzia Rossato
Date Published: August-2014
Source: Nature Reviews Rheumatology

Systemic sclerosis (SSc) is a complex autoimmune disease of unclear aetiology. A multitude of genetic studies, ranging from candidate-gene studies to genome-wide association studies, have identified a large number of genetic susceptibility factors for SSc and its clinical phenotypes, but the contribution of these factors to disease susceptibility is only modest. However, in an endeavour to explore how the environment might affect genetic susceptibility, epigenetic research into SSc is rapidly expanding.