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Systemic Lupus Erythematosus, An Issue of Rheumatic Disease Clinics, von Ginzler, Ellen M. (eBook)

  • Verlag: Elsevier Health Care - Major Reference Works
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Systemic Lupus Erythematosus, An Issue of Rheumatic Disease Clinics,

In only the last four years, there have been dramatic changes in the understanding of the immunology, genetic/epigenetic associations, and identification of new targets for therapy in Systemic Lupus Erythematosus. The editors have enlisted a superb group of authors to present articles detailing cutting-edge advances in these areas.

Produktinformationen

    Format: ePUB
    Kopierschutz: AdobeDRM
    Seitenzahl: 185
    Sprache: Englisch
    ISBN: 9780323323888
    Verlag: Elsevier Health Care - Major Reference Works
    Serie: The Clinics: Internal Medicine Volume 40-3
    Größe: 3516 kBytes
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Systemic Lupus Erythematosus, An Issue of Rheumatic Disease Clinics,

Clinical Perspectives on Lupus Genetics

Advances and Opportunities

Judith A. James, MD, PhD a b ∗ judith-james@omrf.org , aOklahoma Clinical & Translational Science Institute, University of Oklahoma Health Sciences Center, 920 Stanton L Young Boulevard, Oklahoma City, OK 73104, USA ; bDepartments of Medicine, Pathology, Microbiology & Immunology, University of Oklahoma Health Sciences Center, 920 Stanton L Young Boulevard, Oklahoma City, OK 73104, USA

∗Department of Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, 825 Northeast 13th Street, Oklahoma City, OK 73104.

In recent years, genome-wide association studies have led to an expansion in the identification of regions containing confirmed genetic risk variants within complex human diseases, such as systemic lupus erythematosus (SLE). Many of the strongest SLE genetic associations can be divided into groups based on their potential roles in different processes implicated in lupus pathogenesis, including ubiquitination, DNA degradation, innate immunity, cellular immunity, lymphocyte development, and antigen presentation. Recent advances have also shown several genetic associations with SLE subphenotypes and subcriteria. Many areas for further exploration remain to move lupus genetic studies toward clinically informative end points.

Keywords

SLE

Lupus

Genetics

Clinical subphenotypes

GWAS

Nephritis

Autoantibodies
Key points

- Polymorphisms in genes important for ubiquitination, DNA degradation, innate immunity, cellular immunity, antigen presentation, and lymphocyte development are associated and confirmed in systemic lupus erythematosus (SLE).

- Select genetic associations are enriched in patients with SLE with certain autoantibodies, antiphospholipid syndrome, pericarditis, thrombosis, arthritis, or lupus nephritis.

- New lupus genetic studies are warranted, especially with large cohorts enriched for understudied races, and in patients with severe disease or poor prognosis.

- New lupus genetic studies are also warranted in large cohorts of patients with SLE with phenotype information about common lupus comorbidities and response to therapeutics.
Introduction

Systemic lupus erythematosus (SLE; lupus) is a complex clinical syndrome with a wide range of clinical symptoms and significant immune dysregulation including production of high concentrations of autoantibodies. Lupus cases have been found to cluster in families with 66% heritability and a lambda S between 8 and 29. Monozygotic twin studies have shown 24% to 69% twin concordance rates, compared with the dizygotic twin or sibling rates of 2% to 5%. 1 – 3 Since the first genome-wide association studies (GWAS) conducted in SLE were published in 2008, 4 – 6 the number of associated and confirmed genetic associations has increased greatly, as shown and referenced in Table 1 , which summarizes these findings to December 2013.

Table 1

Loci associated with SLE through GWAS, meta-analysis studies, candidate gene studies, or replication studies from 1992 to December 2013
IKBKE NFκB signaling 1q32.1 rs1539241/rs12142086 EU 94 TNIP1 Ubiquitination in NFκB signaling 5q32 rs10036748 EU, AA, AS 4, 15, 23, 77, 95, 96 TNFAIP3 Ubiquitination

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