Open AccessA single nucleotide polymorphism in the IL1RL1 gene is associated with Behcet’s disease in a Chinese Han population
Author(s) -
Xin-Shu Liu,
Si Chen,
Chan Zhao,
Fei Gao,
Minghang Pei,
Shanshan Jia,
Yongzhe Li,
Peizeng Yang,
Meifen Zhang
Publication year - 2021
Publication title -
international journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2021.09.04
Subject(s) - single nucleotide polymorphism , medicine , genotype , allele , behcet's disease , polymorphism (computer science) , disease , genetics , gene , biology
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 population.METHODS: 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 iPLEX platform.RESULTS: A statistically significant association was observed between IL1RL1 rs12712142 and BD patients. The 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 patients.CONCLUSION: 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.