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Ankylosing spondylitis (AS) is a rheumatic disease of largely genetic origin, which means that it runs in families. It affects not only the joints and bones; other parts of the body can also be impacted. These include the heart, the lungs and the eyes.

In this study, Dr. Tammy M. Martin and her colleagues sought to uncover whether a specific gene or multiple genes are involved in susceptibility to a serious inflammation of the eye called iritis or acute anterior uveitis (AAU), in people with AS. AAU may occur in the absence of other inflammatory disease or in the presence of AS and related diseases. Since 40% of patients with AS also have AAU, the study enrolled a large proportion of participants with AS as well as AAU. AAU is potentially a serious disorder that can lead to blindness if not properly identified and treated.

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Conclusion of the Study
The study was able to identify the 9p chromosomal region as being implicated in AAU. In addition, several chromosomal regions associated with AS also were linked with AAU. Of note, the researchers indicate that the 9p region identified here is relatively large and contains at least 100 genes. Fine mapping studies (refined) are under way to further narrow the boundaries of this region on the chromosome.

The Future
The results of the study are highly encouraging and suggest that some genes my influence particular complications of AS, such as eye involvement. However, the authors note that this relatively small genetic study will require follow-up with much larger cohorts (numbers of study participants) to confirm its findings.

This is important work on behalf of Dr. Martin and her colleagues. It represents a potentially important contribution to better understanding of the causes of AAU, which, as stated previously, is a very common problem in AS and which can lead to blindness.