REVISTA MEDICALA ROMANA - Romanian Medical Journal, Vol. LXI, Nr. 3, An 2014
ISSN 1220-5478  |  e-ISSN 2069-606X
ISSN-L 1220-5478

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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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