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Antiphospholipid syndrome: Genetic review

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Abstract

The possibility of a genetic predisposition to develop the antiphospholipid syndrome (APS) and to produce anticardiolipin antibodies and lupus anticoagulant has been addressed by family studies and by population studies. Various studies suggest a familial occurrence of anticardiolipin antibodies and lupus anticoagulant, with or without clinical evidence of APS. This familial tendency could be genetically determined. Multiple human leukocyte antigen-DR or -DQ associations with antiphospholipid antibodies have been described. Genetic studies of beta2-glycoprotein-1(GP1) polymorphisms have been determined and valine/leucine polymorphism could be a genetic risk for having anti-beta2-GP1 antibodies and APS. Compared with polymorphism of beta2-GP1 as a genetic risk factor for APS, beta2-GP1 deficiency is not associated with thrombosis and patients with APS usually have normal or somewhat elevated levels of beta2-GP1. The antigen specificity of antiphospholipid antibodies and the pathophysiology of thrombosis in APS are highly heterogeneous and multifactorial.

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  1. Oklahoma Medical Research Foundation, 825 Northeast 13th Street, 73104, Oklahoma City, OK, USA

    Bahram Namjou MD

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Namjou, B. Antiphospholipid syndrome: Genetic review. Curr Rheumatol Rep 5, 391–394 (2003). https://doi.org/10.1007/s11926-003-0030-8

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