X.-F. Huang, W. Chi, D. Lin, M.-L. Dai, Y.-L. Wang, Y.-M. Yang, Z.-B. Jin* and Y. Wang* Pages 471 - 477 ( 7 )
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 laterality status.
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.
IL33, IL1RAP, acute anterior uveitis, association analysis, innate immune system, vision loss.
The Eye Hospital, Wenzhou Medical University, Wenzhou, State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, The Eye Hospital, Wenzhou Medical University, Wenzhou, The Eye Hospital, Wenzhou Medical University, Wenzhou, The Department of Ophthalmology, The First Affiliated Hospital of Nanchang University, Nanchang, Wenzhou People's Hospital, Wenzhou Physical Examination Center, Wenzhou, The Eye Hospital, Wenzhou Medical University, Wenzhou, The Eye Hospital, Wenzhou Medical University, Wenzhou