How is a human leukocyte antigen (HLA) disease association defined?

Updated: Oct 30, 2018
  • Author: Anna Luisa Di Lorenzo, MBBCh; Chief Editor: Andrew A Dahl, MD, FACS  more...
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Answer

Answer

An HLA disease association is defined as a statistically increased frequency of the HLA haplotype in individuals with the specific disease compared to the frequency in individuals without the disease. This is expressed as a relative risk. For example, HLA-B27 appears in 80-90% of patients with ankylosing spondylitis. Expressed as a relative risk, an HLA-B27 positive individual is approximately 87 times more susceptible to developing ankylosing spondylitis compared to the general population.


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