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Genetic risk factors of thrombosis in the antiphospholipid syndrome
Author(s) -
CastroMarrero Jesús,
Balada Eva,
VilardellTarrés Miquel,
OrdiRos Josep
Publication year - 2009
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2009.07831.x
Subject(s) - antiphospholipid syndrome , thrombosis , medicine , intensive care medicine
Summary The possibility of a genetic predisposition to develop antiphospholipid syndrome (APS) and to produce anticardiolipin antibodies and lupus anticoagulant has been addressed by family studies and 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 leucocyte antigen‐DR or ‐DQ associations with antiphospholipid antibodies have been described. Genetic studies of a representative antigen, beta2‐glycoprotein‐I (β 2 GPI), have been carried‐out and a particular valine 247 /leucine polymorphism could be a genetic risk for presenting anti‐β 2 GPI antibodies and APS. Many other thrombosis‐related genetic factors have been investigated in APS, but no additional risk for thrombosis has been indicated in affected patients. Although the mechanisms and pathophysiology of thrombosis in APS are highly heterogeneous and multifactorial, different genes and acquired factors seem to be involved. In this review, we will focus on those genetic variants that could contribute to the development of thrombosis in APS.