title: Genetic aspects of the antiphospholipid syndrome: An update.
abstract: Studies on the immunogenetic predisposition to antiphospholipid syndrome (APS) and on other non-genetic and epigenetic factors are summarised and discussed. Family studies suggest a genetic predisposition to APS. It appears that this genetic predisposition is in part accounted for by the HLA system, the most consistent associations being those with DR4 and DRw53. Furthermore, it appears that lupus anticoagulant (LA) and anticardiolipin (aCL) antibodies are both associated with the same HLA antigens. Population studies suggest that HLA genes have a role in conferring susceptibility to develop primary APS, with some differences in different ethnic groups. Other genes, outside the MHC, give their contribution to the development of this autoimmune syndrome, such as IRF5, STAT4 and those related to inherited thrombophilia--factor V Leiden and G20210A prothrombin polymorphisms. Finally, post-transcriptional modifications of anti-beta2GPI antibodies could be implicated too.
authors.affiliation: U.O.C. Reumatologia, Ospedale San Camillo-Forlanini, Roma, Italy. Electronic address: giandoreum@libero.it.
authors.forename: Gian Domenico
authors.initials: GD
authors.lastname: Sebastiani
authors.affiliation: U.O.C. Reumatologia, Ospedale San Camillo-Forlanini, Roma, Italy. Electronic address: annamariaiuliano@hotmail.it.
authors.forename: Annamaria
authors.initials: A
authors.lastname: Iuliano
authors.affiliation: Dip. Di Medicina Clinica e Scienze Immunologiche sez. di Reumatologia, Policlinico Le Scotte, Università di Siena, Siena, Italy. Electronic address: cantariniluca@hotmail.com.
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
authors.affiliation: Dip. Di Medicina Clinica e Scienze Immunologiche sez. di Reumatologia, Policlinico Le Scotte, Università di Siena, Siena, Italy. Electronic address: galeazzi@unisi.it.
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
mesh_terms: D000818:Animals; D000906:Antibodies / Q000276:immunology; D016736:Antiphospholipid Syndrome / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006801:Humans; D011110:Polymorphism, Genetic; D011499:Protein Processing, Post-Translational
chemical_list: D000906:Antibodies
keywords: Antiphospholipid syndrome; HLA; Immunogenetics; MHC; Thrombophilic hereditary factors