Background: AAU (acute anterior uveitis) is the most common entity of
uveitis characterized by acute vision loss and violent sore eyes. IL-33 and IL-1RacP
have been found to play crucial roles in the innate immune system.
Objective: In the present study, we investigated the association of IL33 and IL1RAP
genes with AAU.
Method: A total of 549 AAU patients and 1080 unrelated healthy controls were recruited
for this study. Ten single nucleotide polymorphisms (SNPs) were genotyped using
Sequenom Mass ARRAY technology.
Results: Our findings demonstrated that IL1RAP-rs3773978 significantly associated with
AAU and could serve as a genetic risk marker in Chinese AAU patients. A significantly
increased frequency of the A allele and AA homozygosity of IL1RAP-rs3773978 was
observed in AAU patients compared with that in controls (p=0.001, pc=0.01, OR=1.282,
95% CI 1.106 to 1.487; p=0.0003, pc=0.003, OR=1.647, 95% CI 1.255 to 2.163,
respectively). Further stratification analyses showed that the genetic correlation may
differ depending on HLA-B27 status, AS (ankylosing spondylitis) status, attack times and
Conclusion: Our findings provide new insights that enhance the current knowledge of
uveitis genetics by demonstrating the specific functional roles of IL1RAP and other IL-1
family genes in uveitis.