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Antiphospholipid syndrome: genetic review
1Oklahoma Medical Research Foundation, 825 Northeast 13th Street, Oklahoma City, OK 73104, USA. namjoub@omrf.ouhsc.edu
Current Rheumatology Reports
|September 12, 2003
Summary
Genetic factors may predispose individuals to antiphospholipid syndrome (APS). Studies suggest familial links to antiphospholipid antibodies and lupus anticoagulant, possibly due to genetic variations like beta(2)-glycoprotein-1 polymorphisms.
Area of Science:
- Immunogenetics
- Rheumatology
- Thrombosis Research
Background:
- Antiphospholipid syndrome (APS) is characterized by recurrent thrombosis and pregnancy complications.
- The role of genetic predisposition in APS development and autoantibody production is under investigation.
- Familial clustering of APS and associated autoantibodies (anticardiolipin, lupus anticoagulant) suggests a genetic component.
Purpose of the Study:
- To explore the genetic basis for antiphospholipid syndrome (APS) and the production of associated autoantibodies.
- To identify specific genetic markers, such as human leukocyte antigen (HLA) and beta(2)-glycoprotein-1 (beta(2)-GP1) polymorphisms, associated with APS.
- To differentiate the risk conferred by beta(2)-GP1 polymorphisms versus beta(2)-GP1 deficiency in APS pathogenesis.
Main Methods:
- Review of family and population studies investigating the inheritance patterns of APS and antiphospholipid antibodies.
- Analysis of human leukocyte antigen (HLA)-DR and -DQ associations with antiphospholipid antibodies.
- Examination of genetic polymorphisms in beta(2)-glycoprotein-1 (beta(2)-GP1), including the valine/leucine polymorphism, and their correlation with anti-beta(2)-GP1 antibodies and APS.
Main Results:
- Evidence suggests a familial tendency towards anticardiolipin antibodies and lupus anticoagulant, with or without clinical APS.
- Specific HLA-DR/DQ associations with antiphospholipid antibodies have been reported.
- Beta(2)-glycoprotein-1 (GP1) valine/leucine polymorphism is identified as a potential genetic risk factor for anti-beta(2)-GP1 antibodies and APS.
Conclusions:
- Genetic predisposition likely contributes to the development of antiphospholipid syndrome (APS) and associated autoantibodies.
- Beta(2)-glycoprotein-1 (GP1) polymorphism, specifically valine/leucine, represents a significant genetic risk factor for APS.
- Beta(2)-GP1 deficiency is not linked to thrombosis in APS; patients typically have normal or elevated beta(2)-GP1 levels, highlighting the complexity of APS pathophysiology.
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