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Published in: Current Rheumatology Reports 9/2013

01-09-2013 | SYSTEMIC LUPUS ERYTHEMATOSUS (M PETRI, SECTION EDITOR)

Genetics and Epigenetics of Systemic Lupus Erythematosus

Authors: Patrícia Costa-Reis, Kathleen E. Sullivan

Published in: Current Rheumatology Reports | Issue 9/2013

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Abstract

Genetics unquestionably contributes to systemic lupus erythematosus (SLE) predisposition, progression and outcome. Nevertheless, single-gene defects causing lupus-like phenotypes have been infrequently documented. The majority of the identified genetic SLE risk factors are, therefore, common variants, responsible for a small effect on the global risk. Recently, genome wide association studies led to the identification of a growing number of gene variants associated with SLE susceptibility, particular disease phenotypes, and antibody profiles. Further studies addressed the biological effects of these variants. In addition, the role of epigenetics has recently been revealed. These combined efforts contributed to a better understanding of SLE pathogenesis and to the characterization of clinically relevant pathways. In this review, we describe SLE-associated single-gene defects, common variants, and epigenetic changes. We also discuss the limitations of current methods and the challenges that we still have to face in order to incorporate genomic and epigenomic data into clinical practice.
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Metadata
Title
Genetics and Epigenetics of Systemic Lupus Erythematosus
Authors
Patrícia Costa-Reis
Kathleen E. Sullivan
Publication date
01-09-2013
Publisher
Springer US
Published in
Current Rheumatology Reports / Issue 9/2013
Print ISSN: 1523-3774
Electronic ISSN: 1534-6307
DOI
https://doi.org/10.1007/s11926-013-0369-4

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