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Genetic heterogeneity in primary ankylosing spondylitis
The Journal of Rheumatology
|May 1, 1980
Summary
Primary ankylosing spondylitis (AS) shows genetic heterogeneity. Even without HLA-B27, other genetic factors like HLA-Bw16 may contribute to AS development, suggesting links to psoriasis and inflammatory bowel disease.
Area of Science:
- Immunogenetics
- Rheumatology
Background:
- Ankylosing spondylitis (AS) is a chronic inflammatory disease.
- The human leukocyte antigen B27 (HLA-B27) is strongly associated with AS.
- Genetic heterogeneity in AS pathogenesis is increasingly recognized.
Purpose of the Study:
- To investigate genetic factors beyond HLA-B27 in primary ankylosing spondylitis.
- To explore the role of HLA-Bw16 in AS development.
- To assess potential links between AS and other inflammatory conditions.
Main Methods:
- Studied 115 white patients with primary ankylosing spondylitis.
- Compared HLA-B27 and HLA-Bw16 allele frequencies with control groups.
- Analyzed genetic associations in HLA-B27 negative AS patients.
Main Results:
- 92% of AS patients were HLA-B27 positive (p < 0.001).
- 40% of HLA-B27 negative AS patients carried HLA-Bw16, significantly higher than controls (p < 0.014).
- This suggests HLA-Bw16 is associated with AS in the absence of HLA-B27.
Conclusions:
- Primary AS exhibits genetic heterogeneity.
- HLA-Bw16 may be a susceptibility allele for AS, particularly in HLA-B27 negative individuals.
- Findings support the role of shared genetic factors between AS, psoriasis, and inflammatory bowel disease.