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1Department of Rheumatology, Charing Cross and Westminster Medical School, London SWIP 2AP, UK.
Immunology Today
|October 8, 2014
Summary
Ankylosing spondylitis has genetic links, but environmental factors also play a role. Not all genetic predispositions guarantee disease development, suggesting complex causes for this condition.
Area of Science:
- Rheumatology
- Genetics
- Immunology
Background:
- Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the axial skeleton.
- AS exhibits a strong male predominance and is associated with the HLA-B27 antigen.
- The exact etiology of AS remains incompletely understood, with evidence suggesting both genetic and environmental influences.
Purpose of the Study:
- To review the current understanding of the genetic and environmental factors contributing to the etiology of ankylosing spondylitis.
- To explore the complex interplay between inherited predispositions and external triggers in AS pathogenesis.
Main Methods:
- This is a review article, synthesizing existing research on ankylosing spondylitis.
- Literature search on genetic associations (e.g., HLA-B27) and environmental triggers in AS.
- Discussion of discordant twin studies to highlight non-genetic influences.
Main Results:
- A significant genetic predisposition to ankylosing spondylitis exists, evidenced by familial aggregation and HLA-B27 association.
- Genetic factors alone do not fully explain disease development, as demonstrated by incomplete concordance in identical twins.
- Environmental factors are implicated as crucial co-contributors to the disease process.
Conclusions:
- The development of ankylosing spondylitis is multifactorial, involving a combination of genetic susceptibility and environmental exposures.
- Further research is needed to elucidate specific environmental triggers and their interaction with genetic risk factors in AS.
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