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Genetics and Epigenetics of Systemic Lupus Erythematosus

  • SYSTEMIC LUPUS ERYTHEMATOSUS (M PETRI, SECTION EDITOR)
  • Published:
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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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Conflict of Interest

Kathleen E. Sullivan has received gifts from CSL Behring, has received grant support from Baxter, has received honoraria from Boston Children’s Hospital, and has received royalties from UpToDate.

Patrícia Costa-Reis declares that she has no conflict of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd. Abramson Research Center 1214, Philadelphia, PA, 19104, USA

    Patrícia Costa-Reis & Kathleen E. Sullivan

  2. The University of Pennsylvania Perelman School of Medicine, Philadelphia, USA

    Patrícia Costa-Reis & Kathleen E. Sullivan

  3. Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal

    Patrícia Costa-Reis

Authors
  1. Patrícia Costa-Reis
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  2. Kathleen E. Sullivan
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Correspondence to Patrícia Costa-Reis.

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This article is part of the Topical Collection on Systemic Lupus Erythematosus

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Costa-Reis, P., Sullivan, K.E. Genetics and Epigenetics of Systemic Lupus Erythematosus. Curr Rheumatol Rep 15, 369 (2013). https://doi.org/10.1007/s11926-013-0369-4

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  • DOI: https://doi.org/10.1007/s11926-013-0369-4

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