Exploring the etiopathogenesis of systemic lupus erythematosus: a genetic perspective.
Autoimmunity
Medical genetics
Physiopathology
Polymorphism
Systemic lupus erythematosus
Journal
Immunogenetics
ISSN: 1432-1211
Titre abrégé: Immunogenetics
Pays: United States
ID NLM: 0420404
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
28
08
2018
accepted:
07
01
2019
pubmed:
24
1
2019
medline:
3
9
2019
entrez:
24
1
2019
Statut:
ppublish
Résumé
Systemic lupus erythematosus (SLE) is an autoimmune multi-organ disorder that presents itself in a thousand ways. Its clinical course is extremely unpredictable, which makes diagnosis and treatment a challenge for clinicians. It appears that the clinical course of SLE is determined by genetic material in combination with environmental factors. In this article, we review recent findings on the pathogenesis of SLE from the perspective of genetics, focusing on defects in the clearance of apoptotic bodies and immune complexes, on alterations in the innate immune system response, and on impaired pathways in the adaptive immune system. Furthermore, the major histocompatibility complex (MHC) and non-MHC genes discovered during genome-wide association studies (GWASs) in SLE patients are also evaluated. In addition, the effect of these polymorphisms on the function of their related transcripts and their association with the clinical manifestations of SLE and its pathophysiology are explained. Finally, the association of genetic polymorphisms with clinical responses to common medications used in the treatment of SLE is also discussed.
Identifiants
pubmed: 30671674
doi: 10.1007/s00251-019-01103-2
pii: 10.1007/s00251-019-01103-2
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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