Rheumatology Medical News about Ankylosing spondylitis, MHC, HLA-B27

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The genetic background of ankylosing spondylitis
Joint, Bone, Spine, 07/27/09

Vegvan A et al. – Article summarizes the data on genetic basis of ankylosing spondylitis (AS) based on both human and rodents studies. Most relevant information on HLA as well as non-MHC alleles is also discussed.

Major histocompatibility complex (MHC), especially HLA-B27, plays a central role in susceptibility to AS
HLA-B27 confers ~20 to 50% of the total genetic risk for this disease
However, AS is definitely not a single gene disease and the genetic background of AS cannot be fully explained by associations with the MHC
Recent GWAS studies have confirmed strong association of:
- IL-1 cluster on chromosome 2
- IL-23R gene on chromosome 1, and
- ARTS1 genes on chromosome 5 with AS
Linkage analysis confirmed possible associations with other regions
The strongest linkage observed for loci on chromosome 16; moderate linkage at sites on chromosomes 3, 10, 11, 17 and 19
In the PGIS animal model, 2 susceptibility loci termed Pgis1 and Pgis2 were identified