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Recent Advances in Understanding of the Genetics of Antiphospholipid Syndrome

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Antiphospholipid Syndrome

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Abstract

Available evidence supports an inherited risk for the occurrence of antiphospholipid antibodies (aPL), with or without the clinical manifestations associated with antiphospholipid syndrome (APS). Immediate relatives of individuals with APS, whether primary or associated with another autoimmune disease, are more likely to have aPL. Several reports describe multiplex families with APS or APS associated with another autoimmune disorder, and there is a strong association between aPL and APS with specific genes and gene alleles in the major histocompatibility complex. Other genetic risk factors also appear to contribute to the risk of thrombotic events or recurrent pregnancy loss in individuals with aPL. These data suggest that the development of aPL as well as its associated clinical syndrome reflects a complex interplay of inherited and acquired risk factors. Genome-wide studies designed to identify and characterize genes associated with the development of aPL should improve our understanding of this complex autoimmune disorder and regarding which patients with aPL are likely to develop clinical manifestations of the syndrome.

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Authors and Affiliations

  1. Division of Rheumatology, Department of Internal Medicine, Duke University School of Medicine, Morrisville, NC, USA

    Niti Goel

  2. Department of Medicine, Duke University Medical Center, Durham, NC, USA

    Thomas L. Ortel

  3. Strategic Drug Development, Global Services, QuintilesIMS, Morrisville, NC, USA

    Niti Goel

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  1. Niti Goel
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  2. Thomas L. Ortel
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Correspondence to Niti Goel .

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  1. The Barbara Volcker Center for Women and Rheumatic Diseases, Associate Attending Physician, Hospital for Special Surgery, Associate Professor of Medicine, Weill Cornell Medicine, New York, New York, USA

    Doruk Erkan

  2. The Barbara Volcker Center for Women and Rheumatic Diseases, Attending Physician, Hospital for Special Surgery, Professor of Medicine and Obstetrics-Gynecology, Weill Cornell Medicine, New York, New York, USA

    Michael D. Lockshin

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Goel, N., Ortel, T.L. (2017). Recent Advances in Understanding of the Genetics of Antiphospholipid Syndrome. In: Erkan, D., Lockshin, M. (eds) Antiphospholipid Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-319-55442-6_4

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