M. Cojocaru and Bogdan Chicos

ABSTRACT

Antiphospholipid syndrome (APS) is characterized by venous or arterial thromboses, fetal losses and thrombocytopenia, in the presence of antiphospholipid antibodies (aPL), namely lupus anticoagulant (LA), anticardiolipin antibodies (aCL) or antibodies directed to various proteins, mainly beta2-glycoprotein 1 (β2-GP1), or in the presence of all three. It is possible that some people with APS have a genetic predisposition for developing this syndrome. Genetic susceptibility related to aPL and APS has been extensively examined during recent years. It is becoming increasingly clear that interactions between more than one genetic abnormality or between a genetic factor and environment components determine whether and when an individual will suffer from venous thrombosis. Given the fact that APS is characterized mainly by the presence of thromboembolic events, it seems perfectly plausible that several genetic factors may also be involved in its pathophysiology. Despite the strong association between aPL and thrombosis, their pathogenic role in the development of thrombosis has not been fully elucidated. This review focuses on some of the genetic risk factors associated with APS.

Keywords: genetics, antiphospholipid antibody, antiphospholipid syndrome

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M. Cojocaru, Inimioara Mihaela Cojocaru and Bogdan Chicos

ABSTRACT
The spondyloarthropaties (SpAs) are chronic inflammatory diseases that involve the sacroiliac joints, axial skeleton, and, to a lesser degree, peripheral joints and certain extra-articular organs, including the eyes, skin, and cardiovascular system. Current research has demonstrated that genetics play an integral role in the development of SpAs. Genome screens have identified regions that may contain susceptibility genes for SpAs. The spondyloarthropaties are associated strongly with HLA-B27, an HLA class-I gene. Several genotypic subtypes of HLA-B27 are associated with the SpAs, with HLA-B*2705 having the strongest association. HLA-B*2702, *2703, *2704, and *2707 are also associated with ankylosing spondylitis (AS). HLA-B27-restricted CD8+ (cytotoxic) T cells may play an important role in bacterial-related SpAs such as reactive arthritis. It has been shown that the presence of the genetic marker HLA-B27 increases the likelihood of developing AS. HLA-B27 testing is of limited value. It is important to note that being HLA-B27 positive does not mean that someone will get ankylosing spondylitis (AS) nor does the gene appear in all those who have AS. The pathogenesis of SpAs is linked to a genetic predisposition (essentially HLA-B27). This article reviews the literature concerning the genetics in the most common SpAs.

Keywords: genetic disorders, spondyloarthropathies

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