Pathogenesis (disease development)
Ankylosing spondylitis is a chronic inflammatory disease of the spine that is often associated with the presence of the laboratory parameter HLA-B27.
The exact pathogenesis has not yet been fully elucidated. Immune-mediated reactions are assumed.
In the course of the disease, erosions (defects) of the joints occur, which in turn are replaced by regenerative tissue. This tissue (fibrocartilage) ossifies (ossifies) as the disease progresses and ankyloses (stiffens) the joint.
Etiology (causes)
Biographic causes
- Genetic burden through parents, grandparents, especially through inheritance of the gene HLA-B27.
- Genetic risk depending on gene polymorphisms:
- Genes/SNPs (single nucleotide polymorphism):
- Genes: FGFR3P1
- SNP: rs13202464 in the gene FGFR3P1
- Allele constellation: AG (carrier of an HLA-B27 allele).
- Allele constellation: GG (carrier of two HLA-B27 alleles).
- Genes/SNPs (single nucleotide polymorphism):
- Genetic risk depending on gene polymorphisms: