title: Genetic analysis of innate immunity in Behcet's disease identifies an association with IL-37 and IL-18RAP.
abstract: Interleukin-1 (IL-1) and the IL-1 receptor (IL-1R) family play an important role in the pathogenesis of inflammatory diseases. This study aimed to investigate the association between single nucleotide polymorphisms (SNP) of IL-1 and IL-1R family genes with Vogt-Koyanagi-Harada (VKH) and Behcet's disease (BD) in Han Chinese. The case-control study was divided into two stages and included 419 VKH cases, 1063 BD cases and 1872 healthy controls. The MassARRAY platform (Sequenom), iPLEX Gold Assay and TaqMan SNP assays were used to score genotypes of 24 SNPs. The expression of IL-37 and IL-18Rap was measured by ELISA and real-time PCR in genotyped healthy individuals. A significantly lower frequency of the AG genotype, and a higher frequency of the GG genotype and G allele of IL-37/rs3811047 were observed in BD as compared to controls. AA genotype and A allele frequency of IL-18RAP/rs2058660 was significantly decreased in BD as compared to controls. Functional studies performed in healthy controls showed that rs3811047 AG genotype carriers had a higher IL-37 gene expression in peripheral blood mononuclear cells (PBMCs) than GG carriers. GG carriers showed a higher cytokine expression as compared to AG carriers. No association was detected between the tested SNPs and VKH.
authors: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.
authors: Handan
authors: H
authors: Tan
authors: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.
authors: Bolin
authors: B
authors: Deng
authors: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.
authors: Hongsong
authors: H
authors: Yu
authors: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.
authors: Yi
authors: Y
authors: Yang
authors: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.
authors: Lin
authors: L
authors: Ding
authors: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.
authors: Qi
authors: Q
authors: Zhang
authors: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.
authors: Jieying
authors: J
authors: Qin
authors: University Eye Clinic Maastricht, Maastricht, Limburg, the Netherlands.
authors: Aize
authors: A
authors: Kijlstra
authors: Department of Molecular and Human Genetics, Human Genome Sequencing Center, Structural and Computational Biology and Molecular Biophysics Graduate Program, The Verna and Marrs Mclean Department of Biochemistry and Molecular Biology and Program in Developmental Biology, Baylor College of Medicine, Houston, USA.
authors: Rui
authors: R
authors: Chen
authors: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.
authors: Peizeng
authors: P
authors: Yang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001528:Behcet Syndrome / Q000209:etiology / Q000235:genetics / Q000276:immunology*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics*; D007375:Interleukin-1 / Q000235:genetics* / Q000276:immunology; D053728:Interleukin-18 Receptor beta Subunit / Q000235:genetics*; D007963:Leukocytes, Mononuclear / Q000502:physiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014607:Uveomeningoencephalitic Syndrome / Q000209:etiology / Q000235:genetics
chemical_list: C115629:IL18RAP protein, human; C508587:IL37 protein, human; D007375:Interleukin-1; D053728:Interleukin-18 Receptor beta Subunit