Genetics of antiphospholipid syndrome.
The mechanisms of thrombosis in antiphospholipid syndrome (APS) are highly heterogeneous and multifactorial, and some genetic factors may be involved in its pathophysiology. The genetic variants of representative antigen, beta 2-glycoprotein I (beta 2GPI), have been known, and valine/leucine247 polymorphism is a genetic risk for having anti beta 2GPI antibodies and APS. Congenital beta 2GPI deficiency did not correlate with thrombophilia, thus its responsible gene (beta 2GPI-Sapporo) was not a risk for thrombosis. Many other thrombosis-related genetic factors have been investigated in APS, but no additional risk for thrombosis has been indicated in patients with antiphospholipid antibodies.
Atsumi
T
T
Department of Medicine II, Hokkaido University School of Medicine, Sapporo, Japan. at3tat@med.hokudai.ac.jp
Bertolaccini
M L
ML
Koike
T
T
D017152:Antibodies, Antiphospholipid / Q000235:genetics* / Q000276:immunology; D016736:Antiphospholipid Syndrome / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D010641:Phenotype; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics* / Q000276:immunology; D011110:Polymorphism, Genetic; D012307:Risk Factors
D017152:Antibodies, Antiphospholipid; D019038:Platelet Glycoprotein GPIb-IX Complex