The haplotypes of various TNF related genes associated with scleritis in Chinese Han
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PRIMARY RESEARCH
Open Access
The haplotypes of various TNF related genes associated with scleritis in Chinese Han Yingnan Gao1, Liping Du1, Fuzhen Li1, Jiadong Ding1,2, Geng Li1, Qingfeng Cao3, Na Li1, Guannan Su3, Aize Kijlstra4 and Peizeng Yang1,3*
Abstract Background: Several studies have stated that TNF-α participates in the pathogenesis of scleritis, but also in several systemic autoimmune diseases and vasculitis, of which some are associated with scleritis. Earlier GWAS and SNP studies have confirmed that multiple SNPs of TNF related genes are associated with many immune-mediated disorders. The purpose of this study was to examine the association of TNF related gene polymorphisms with scleritis in Chinese Han. A case-control study was carried out in 556 non-infectious scleritis cases and 742 normal controls. A total of 28 single-nucleotide polymorphisms (SNPs) were genotyped by the iPLEXGold genotyping assay. Results: No significant correlations were seen between the individual SNPs in the TNF related genes and scleritis. Haplotype analysis showed a significantly decreased frequency of a TNFAIP3 TGT haplotype (order of SNPs: rs9494885, rs3799491, rs2230926) (Pc = 0.021, OR = 0.717, 95% CI = 0.563–0.913) and a significantly increased frequency of a TNFSF4 GT haplotype (order of SNPs: rs3850641, rs704840) (Pc = 0.004, OR = 1.691, 95% CI = 1.205– 2.372) and TNFSF15 CCC haplotype (order of SNPs: rs6478106, rs3810936, rs7865494) (Pc = 0.012, OR = 1.662, 95% CI = 1.168–2.363) in patients with scleritis as compared with healthy volunteers. Conclusions: This study reveals that a TGT haplotype in TNFAIP3 may be a protective factor for the development of scleritis and that a GT haplotype in TNFSF4 and a CCC haplotype in TNFSF15 may be risk factors for scleritis in Chinese Han. Keywords: Scleritis, TNF related genes, Haplotype, Gene polymorphism, A case-control study
Background Scleritis is a relatively uncommon and heterogeneous ocular disorder which is clinically characterized by the insidious onset of ocular redness, pain, and tenderness [1]. According to the anatomic location, it is usually * Correspondence: [email protected] 1 Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Henan Province Eye Hospital, Henan International Joint Research Laboratory for Ocular Immunology and Retinal Injury Repair, Jianshe East Road 1, Zhengzhou 450052, People’s Republic of China 3 The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Youyi Road 1, Chongqing 400016, People’s Republic of China Full list of author information is available at the end of the article
classified into anterior, posterior, or pan-scleritis [2]. Scleritis is an inflammation of the stroma of the sclera. The inflammatory process of the sclera may extend to adjacent tissues if not treated adequately, possibly causing several ocular complications and even blindness [3, 4]. However, the precise etiologic pathways or mechanisms of scleritis are
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