A single nucleotide polymorphism in the IL1RL1 gene is associated with Behcet's disease in a Chinese Han population

作     者：Xin-Shu Liu Zi-Yan Wu Si Chen Chan Zhao Fei Gao Ming-Hang Pei Shan-Shan Jia Yong-Zhe Li Pei-Zeng Yang Mei-Fen Zhang 

作者机构：Department of OphthalmologyPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Rheumatology and Clinical ImmunologyPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeKey Laboratory of Rheumatology and Clinical ImmunologyMinistry of EducationBeijing 100730China Department of Clinical LaboratoryBeijing Anzhen HospitalCapital Medical UniversityBeijing 100029China Department of Clinical LaboratoryPeking Union Medical College HospitalPeking Union Medical College and Chinese Academy of Medical SciencesBeijing 100730China The First Affiliated Hospital of Chongqing Medical UniversityChongqing Key Laboratory of Ophthalmology and Chongqing Eye InstituteChongqing 400016China 

出 版 物：《International Journal of Ophthalmology(English edition)》 (国际眼科杂志（英文版）)

年 卷 期：2021年第14卷第9期

页      面：1315-1320页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：the National Natural Science Foundation of China (No.81770917) 

主　　题：Behcet’s disease single nucleotide polymorphism Chinese Han population IL33 IL1RL1 

摘      要：AIM:To explore the association of single nucleotide polymorphisms(SNPs)in the IL33/IL1RL1 gene region with the susceptibility to Behcet’s disease(BD)in a Chinese Han ***:A total of eight SNPs in the candidate gene region(rs11792633,rs7025417,rs10975519 and rs1048274 in IL33;rs2310220,rs12712142,rs13424006 and rs3821204 in IL1RL1)were genotyped in783 BD patients and 701 healthy controls by the Sequenom Mass Array i PLEX ***:A statistically significant association was observed between IL1RL1 rs12712142 and BD *** frequency of IL1RL1 rs12712142 variant allele A was significantly lower in BD patients than that in controls(OR=0.8,95%CI:0.69-0.94,Pc=0.039);the genotype distribution(Pc=0.043)and additive and dominant genetic model analyses(OR=0.8,95%CI:0.69-0.94,Pc=0.040 and OR=0.72,95%CI:0.58-0.88,Pc=0.011)also indicated a strong association between rs12712142 and BD ***:This is the first study to reveal the association between IL1RL1 rs12712142 variant allele A and the decreased risk of BD in the Chinese Han population,indicating a protective role of IL1RL1 in the pathogenesis of BD.