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Immunogenetics in systemic lupus erythematosus: Transitioning from genetic associations to cellular effects
Author(s) -
Hagberg Niklas,
Lundtoft Christian,
Rönnblom Lars
Publication year - 2020
Publication title -
scandinavian journal of immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.934
H-Index - 88
eISSN - 1365-3083
pISSN - 0300-9475
DOI - 10.1111/sji.12894
Subject(s) - immunology , immunogenetics , disease , immune system , phenotype , autoimmune disease , systemic disease , biology , lupus erythematosus , genetics , medicine , immunopathology , gene , antibody , pathology
Abstract Systemic lupus erythematosus (SLE) is a heterogeneous rheumatic autoimmune disease. Genetic studies have identified up to 100 SLE risk loci. Many of these encode proteins of importance in the immune system, but the cellular and molecular mechanisms underlying these associations are still elusive. In this review, we will highlight some of the SLE risk loci where mechanistic insights have been achieved recently by linking genetic risk polymorphisms to cellular or molecular phenotypes important for the disease process.