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Genetics and the axial spondyloarthritis spectrum.


ABSTRACT: The axial SpAs (axSpAs) are clearly clinically a heterogeneous set of diseases with markedly varying extra-articular features. These diseases are all highly heritable and have overlapping but differing genetic origins. Shared features include association with HLA class I alleles and genes of the IL-23 pathway, among other things. Significant differences do exist however, both in the genetic loci involved and at specific loci in the individual genetic variants associated with each disease. These similarities and differences are of great interest in regards to disease pathogenesis and treatment development, although individually they are too small in effect to be of prognostic or diagnostic value. Polygenic risk scores, which capture a high proportion of the genetic variation between disorde

SUBMITTER: Brown MA 

PROVIDER: S-EPMC7566537 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature