Antiphospholipid syndrome: genetic review.
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 beta(2)-glycoprotein-1(GP1) polymorphisms have been determined and valine/leucine polymorphism could be a genetic risk for having anti-beta(2)-GP1 antibodies and APS. Compared with polymorphism of beta(2)-GP1 as a genetic risk factor for APS, beta(2)-GP1 deficiency is not associated with thrombosis and patients with APS usually have normal or somewhat elevated levels of beta(2)-GP1. The antigen specificity of antiphospholipid antibodies and the pathophysiology of thrombosis in APS are highly heterogeneous and multifactorial.
Namjou
Bahram
B
Oklahoma Medical Research Foundation, 825 Northeast 13th Street, Oklahoma City, OK 73104, USA. namjoub@omrf.ouhsc.edu
D017152:Antibodies, Antiphospholipid / Q000235:genetics; D016736:Antiphospholipid Syndrome / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000235:genetics; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic; D053482:beta 2-Glycoprotein I
D017152:Antibodies, Antiphospholipid; D006023:Glycoproteins; D006680:HLA Antigens; D053482:beta 2-Glycoprotein I