The Francis Crick Institute
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The role of genetic risk factors in pathogenesis of childhood-onset systemic lupus erythematosus.

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journal contribution
posted on 2023-07-31, 11:24 authored by Mario Sestan, Nastasia Kifer, Todor Arsov, Matthew Cook, Julia Ellyard, Carola G Vinuesa, Marija Jelusic
The pathogenesis of childhood-onset systemic lupus erythematosus (cSLE) is complex and not fully understood. It involves three key factors: genetic risk factors, epigenetic mechanisms, and environmental triggers. Genetic factors play a significant role in the development of the disease, particularly in younger individuals. While cSLE has traditionally been considered a polygenic disease, it is now recognized that in rare cases, a single gene mutation can lead to the disease. Although these cases are uncommon, they provide valuable insights into the disease mechanism, enhance our understanding of pathogenesis and immune tolerance, and facilitate the development of targeted treatment strategies. This review aims to provide a comprehensive overview of both monogenic and polygenic SLE, emphasizing the implications of specific genes in disease pathogenesis. By conducting a thorough analysis of the genetic factors involved in SLE, we can improve our understanding of the underlying mechanisms of the disease. Furthermore, this knowledge may contribute to the identification of effective biomarkers and the selection of appropriate therapies for individuals with SLE.


Crick (Grant ID: CC2228, Grant title: Vinuesa CC2228)