Genetics of antiphospholipid syndrome

  • Tetsuya Horita
  • Joan T. Merrill


Antiphospholipid syndrome (APS) is an autoimmune disease characterized by recurrent arterial or venous thrombosis or fetal loss and the presence of antiphospholipid antibodies (aPL). Genetic factors are thought to play a role in the susceptibility to APS. Similar to many other polygenic autoimmune diseases, human leukocyte antigen associations have been reported. The genetics of β2-glycoprotein I, one of the most representative target antigens of aPL, has been extensively studied. Additional genetic risk factors for the development of thrombosis in patients with aPL have also been discussed. However, the genes involved in APS have not been identified because antigen specificity of aPL and the pathophysiology of APS are highly heterogeneous and multifactorial. Genomewide linkage analysis and larger cohort studies would lead to better understanding of the genes that might be involved in APS.


Systemic Lupus Erythematosus Systemic Lupus Erythematosus Patient Human Leukocyte Antigen Class Lupus Anticoagulant Human Leukocyte Antigen Association 
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Copyright information

© Current Science Inc 2004

Authors and Affiliations

  • Tetsuya Horita
    • 1
  • Joan T. Merrill
  1. 1.Clinical Pharmacology Research ProgramOklahoma Medical Research FoundationOklahoma CityUSA

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