Transcriptional activity of genes coding transforming growth factor β-1 and its receptors in patients with systemic sclerosis and Raynaud phenomenon

Lis‐Święty, Anna; Gola, Joanna; Mazurek, Urszula; Brzeźińska-Wcisło, Ligia

doi:10.1016/j.jdermsci.2009.01.008

Cited by 1 publication

(1 citation statement)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As the bridge of innate and adaptive immune response, NF-κB is deeply involved in the regulation of activation differentiation and survival of T cells as well as in the regulation of inflammasome activity [82][83][84]. Dysfunction of the NF-κB pathway can be observed in both the early and late stages of SSc [85]. Polymorphisms in genes associated with the NF-κB pathway have been implicated in systemic sclerosis susceptibility.…”

Section: The Nuclear Factor κBmentioning

confidence: 99%

Immunogenetics of Systemic Sclerosis

Gumkowska-Sroka,

Kotyla,

Kotyla

2024

Genes

View full text Add to dashboard Cite

Systemic sclerosis (SSc) is a rare autoimmune connective tissue disorder characterized by massive fibrosis, vascular damage, and immune imbalance. Advances in rheumatology and immunology over the past two decades have led to a redefinition of systemic sclerosis, shifting from its initial perception as primarily a “hyperfibrotic” state towards a recognition of systemic sclerosis as an immune-mediated disease. Consequently, the search for genetic markers has transitioned from focusing on fibrotic mechanisms to exploring immune regulatory pathways. Immunogenetics, an emerging field at the intersection of immunology, molecular biology, and genetics has provided valuable insights into inherited factors that influence immunity. Data from genetic studies conducted thus far indicate that alterations in genetic messages can significantly impact disease risk and progression. While certain genetic variations may confer protective effects, others may exacerbate disease susceptibility. This paper presents a comprehensive review of the most relevant genetic changes that influence both the risk and course of systemic sclerosis. Special emphasis is placed on factors regulating the immune response, recognizing their pivotal role in the pathogenesis of the disease.

show abstract