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Risk score · Immune & inflammatory

Ankylosing Spondylitis Polygenic Risk Score

Ankylosing spondylitis is a long-term inflammatory arthritis of the spine and sacroiliac joints, usually starting in early adulthood. Heritability estimates are above 90%, and HLA-B27 is the strongest genetic factor.

A risk score adds up many common variants, each with a small effect, into an estimate of genetic predisposition. It is not a diagnosis.

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Limitations

  • Most people who carry HLA-B27 never develop the disease, so a score cannot tell whether a carrier will go on to develop it.

References

  1. Nakamura A, Boroojeni SF, Haroon N, 2021. Aberrant antigen processing and presentation: Key pathogenic factors leading to immune activation in Ankylosing spondylitis
  2. Sieper J, Poddubnyy D, 2017. Axial spondyloarthritis
  3. Khan MA, 2002. Update on spondyloarthropathies

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