GENETIC ASPECTS OF THE CLINICAL COURSE OF SYSTEMIC SCLERODERMA

Abstract

Systemic sclerosis (SSc) is a multifactorial autoimmune disease with high clinical heterogeneity. Mechanisms of chronic hypoxia and angiopathy play a particularly important role in the pathogenesis of the disease. The HIF1A gene (hypoxia-inducible factor 1-alpha) encodes the key transcription factor for adaptation to hypoxia, regulating angiogenesis, fibrosis, and inflammation. The Pro582Ser (rs11549465) polymorphism is associated with altered HIF-1α activity and may influence the clinical course of SSc.