Study furthers understanding of genetic involvement in acute anterior uveitis

It has long been recognized that certain individuals have an increased genetic risk for acute anterior uveitis (AAU). Most ophthalmologists are well aware of the association of AAU with HLA-B27.  As knowledge of immunology grows, research is underway to find additional genes that may influence a patient's risk for AAU. 

In this report, the investigators looked at killer cell immunoglubulin-like receptors (KIR) genes in patients with AAU with or without spondyloarthropathy.  The authors reported no association between a KIR gene and patients with AAU without spondyloarthropathy and healthy controls, but they did find that patients with AAU and spondyloarthropathy were more likely to have one KIR gene, 2DS5.  The authors also looked at combinations of HLA and KIR genotypes to look for possible association with disease states and found that the3DL1+Bw4T80 combination was more common in AAU subjects than the3DL1+in controls and the 2DL1+ HLA-C2 combination was less frequent in subjects with axial spondyloarthropathy than subjects with AAU without axial spondyloarthropathy.  Prospective studies of AAU patients with these different genotypes appear warranted.

In conclusion, this report represents part of an important effort to better understand the contribution of multiple genes in conferring risk for AAU.  While there is no doubt that multiple genes do influence the risk of disease, clinicians should be aware that, in the future, risk for AAU and other ocular diseases may be assessed by looking at gene combinations.  As the price of human genome sequencing continues to fall, this may become a common practice in the careers of most ophthalmologists.