title: Genetics of antiphospholipid syndrome.
abstract: 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.
authors.affiliation: Department of Medicine II, Hokkaido University School of Medicine, Sapporo, Japan. at3tat@med.hokudai.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Atsumi
authors.forename: M L
authors.initials: ML
authors.lastname: Bertolaccini
authors.forename: T
authors.initials: T
authors.lastname: Koike
mesh_terms: 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
chemical_list: D017152:Antibodies, Antiphospholipid; D019038:Platelet Glycoprotein GPIb-IX Complex