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Updated: Aug 10, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic susceptibility to ankylosing spondylitis
Anne-Marie Sims1, B Paul Wordsworth, Matthew A Brown
1Wellcome Trust Centre For Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK.
Current Molecular Medicine
|March 12, 2004
Summary
Ankylosing spondylitis is a common genetic rheumatic disease. While HLA-B27 is associated, other genes also contribute significantly to disease risk.
Area of Science:
- Rheumatology
- Genetics
- Immunology
Background:
- Ankylosing spondylitis (AS) is a heritable rheumatic disease affecting the axial skeleton.
- The human leukocyte antigen B27 (HLA-B27) is strongly associated with AS globally.
- Twin studies suggest HLA-B27 accounts for only 16% of the total genetic risk, indicating other genetic factors are involved.
Purpose of the Study:
- To review methods for genetic investigation of ankylosing spondylitis.
- To summarize current research on the genetic basis of AS.
Main Methods:
- Review of existing literature on genetic studies in ankylosing spondylitis.
- Discussion of genetic investigation techniques in the post-genomic era.
Main Results:
- The review highlights the significant role of HLA-B27 in ankylosing spondylitis.
- Evidence points to the involvement of multiple non-B27 genes in AS etiology.
- Current genetic research tools are available to further elucidate the genetic basis of AS.
Conclusions:
- While HLA-B27 is a key factor, the genetic architecture of ankylosing spondylitis is complex and involves numerous genes.
- Further genetic research is crucial for understanding the full etiology of AS.
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