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Genetic studies in ankylosing spondylitis.

J C Woodrow, F E Nichol, G H Whitehouse

    British Journal of Rheumatology
    |November 1, 1983
    PubMed
    Summary

    Ankylosing spondylitis likely has multiple genetic causes. While HLA-B27 is a major factor for susceptibility, other genes may also contribute to the disease.

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    Area of Science:

    • Immunogenetics
    • Rheumatology
    • Human Genetics

    Background:

    • Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the axial skeleton.
    • The genetic basis of AS is complex, with a strong association noted with the HLA-B27 gene.

    Purpose of the Study:

    • To investigate the genetic heterogeneity of ankylosing spondylitis.
    • To determine the role of HLA-B27 and identify other potential genetic factors contributing to AS susceptibility.

    Main Methods:

    • Review of existing genetic association studies.
    • Comparative analysis of disease prevalence in familial and control cohorts.

    Main Results:

    • Evidence strongly supports HLA-B27 as the primary genetic determinant for ankylosing spondylitis susceptibility.
    • A higher prevalence of AS was observed in HLA-B27 positive first-degree male relatives compared to random HLA-B27 positive controls.

    Conclusions:

    • Ankylosing spondylitis exhibits genetic heterogeneity, indicating factors beyond HLA-B27 influence disease development.
    • The findings suggest the involvement of additional susceptibility genes, potentially linked to the HLA region.

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