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To browse Academia. Patricia Castro. The term spondyloarthritis SpA encompasses a group of chronic inflammatory diseases with common features in terms of clinical presentation and genetic predisposition. SpA is characterized by inflammation of the spine and peripheral joints, and is also be associated with extra-articular inflammatory manifestations such as psoriasis, uveitis, or inflammatory bowel disease IBD.
The etiology of SpA is not completely understood, but it is known to have a strong genetic component dominated by the human leukocyte antigen HLA -B In the last few years, our understanding of genetic susceptibility to SpA, particularly ankylosing spondylitis AS , has greatly improved thanks to the findings derived from powered genome-wide association studies GWAS based on single nucleotide polymorphism SNP arrays.
These studies have identified many candidate genes, therefore providing new potential directions in the exploration of disease mechanisms, especially with regard to the key role of the im Maxime Breban. Muhammad Khan. Pascale Guillot. Axial spondyloarthropathies lead to restricted mobility, resulting in difficulties in patients' daily functioning.
Due to the lack of a pathognomonic test, diagnosis is based on a combination of physical examination, laboratory test and imaging results. In therapy the question arises: which treatment line should be chosen? The aim of this article is to discuss the current state of knowledge regarding the role of genes in disease susceptibility.