Huang X-F, Chi W, Lin D, Dai M-L, Wang Y-L, Yang Y-M, Jin Z-B, Wang Y
The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Curr Mol Med. 2018 Mar 9;17(7):471-477. doi: 10.2174/1566524018666180207154938.
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.
In the present study, we investigated the association of IL33 and IL1RAP genes with AAU.
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.
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.
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.
急性前葡萄膜炎（AAU）是葡萄膜炎最常见的类型，其特征为急性视力丧失和眼部剧痛。白细胞介素-33（IL-33）和白细胞介素-1受体辅助蛋白（IL-1RacP）已被发现参与天然免疫系统的关键作用。
在本研究中，我们调查了IL33和IL1RAP基因与AAU的关联。
本研究共纳入549例AAU患者和1080例无亲缘关系的健康对照。采用Sequenom Mass ARRAY技术对10个单核苷酸多态性（SNP）进行基因分型。
我们的研究结果表明，IL1RAP-rs3773978与AAU显著相关，可作为中国AAU患者的遗传风险标志物。与对照组相比，AAU患者中IL1RAP-rs3773978的A等位基因频率和AA纯合子频率显著增加（p=0.001，pc=0.01，OR=1.282，95%CI 1.106至1.487；p=0.0003，pc=0.003，OR=1.647，95%CI 1.255至2.163）。进一步的分层分析表明，遗传相关性可能因人类白细胞抗原B27（HLA-B27）状态、强直性脊柱炎（AS）状态、发作次数和单侧性状态而异。
我们的研究结果提供了新的见解，通过证明IL1RAP和其他IL-1家族基因在葡萄膜炎中的特定功能作用，加深了目前对葡萄膜炎遗传学的认识。
