Genetic factors

Abstract

Systemic sclerosis (SSc) is an orphan connective tissue disease. It is characterised by early vascular damage followed by both tissue and systemic fibrosis affecting many organs, including, in particular, the skin, lungs, heart, kidneys and digestive tract. The combination of environmental and stochastic factors converging upon individuals of a particular genetic background seems to contribute to the development of this disease. We will begin by considering various genetic approaches that can be applied to the study of multi-factorial diseases and will then move on to the principal factors implicated in this disease, which will be considered in greater detail.