Abstract

PURPOSE:

Physiopathology of systemic sclerosis includes autoimmunity factors, endothelial lesions and abnormal fibrotic process which characterizes this disease in the field of systemic autoimmune disorders. Genetic factors of susceptibility are showed by possibility of familial forms of the disease, Choctaw American Indians homogenous population with high disease prevalence of systemic sclerosis and experimental animal models.

KEY POINTS:

We propose a review of the articles published to date in the literature concerning genetical analysis of genes coding for factors potentially involved in the fibrotic process of systemic sclerosis. This includes cytokines (TNF-alpha, interleukin-1, chemokines), growth factors (TGF-beta), extracellular matrix proteins (collagen, fibrillin, fibronectine) and agents acting on vascular tone (angiotensin-converting enzyme and NO synthase).

PERSPECTIVES:

Identification of genetic factors involved in the susceptibility to fibrosis of systemic sclerosis would lead to a better understanding of physiopathological mechanisms of this disease and to therapeutic targets using immunomodulation with drugs, such as already performed in rheumatoid arthritis.