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We recruited 432 scleritis patients and 710 healthy controls. Four tag SNPs of CTLA4 and nine tag SNPs of PTPN22 were selected using Haploview. Genotyping was performed with the Sequenom MassArray\u00ae iPLEX GOLD Assay. Genotype and allele frequency differences were analyzed by \u03c72 test and Bonferroni correction. Haplotype analysis was performed to further evaluate the association of these two genes with scleritis. In this study, CTLA4\/rs3087243 G allele frequency and GG genotype frequency were significantly increased in scleritis patients compared to healthy controls [corrected P-value (Pc) = 0\u00b702, odds ratio (OR) = 1\u00b7475, 95% confidence interval (CI) = 1\u00b7175\u20131\u00b7851; Pc = 0\u00b704, OR = 1\u00b7546, 95% CI = 1\u00b7190\u20132\u00b7008, respectively]. None of the tested SNPs in the PTPN22 gene showed an association with scleritis. Haplotype analysis revealed a lower frequency of a CTLA4 TCAA haplotype (order of SNPs: rs733618, rs5742909, rs231775, rs3087243) (Pc = 4\u00b726 \u00d7 10\u20133, OR = 0\u00b7618, 95% CI = 0\u00b7540\u20130\u00b7858) and a higher frequency of a PTPN22 TTATACGCG haplotype (order of SNPs: rs3789604, rs150426536, rs1746853, rs1217403, rs1217406, rs3789609, rs1217414, rs3789612, rs2488457) (Pc = 2\u00b783 \u00d7 10\u20134, OR = 1\u00b7457, 95% CI = 1\u00b7210-1\u00b7754) in scleritis patients when compared to healthy controls. In conclusion, our findings indicate that CTLA4 and PTPN22 might confer genetic susceptibility to scleritis in a Chinese Han population.<\/jats:p>","DOI":"10.1111\/cei.13298","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T16:31:29Z","timestamp":1553790689000},"page":"230-236","source":"Crossref","is-referenced-by-count":7,"title":["Identification of susceptibility SNPs in CTLA-4 and PTPN22 for scleritis in Han Chinese"],"prefix":"10.1093","volume":"197","author":[{"given":"F","family":"Li","sequence":"first","affiliation":[{"name":"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, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X","family":"Ma","sequence":"additional","affiliation":[{"name":"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, Zhengzhou, China"},{"name":"The Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Du","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Shi","sequence":"additional","affiliation":[{"name":"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, Zhengzhou, China"},{"name":"The Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Q","family":"Cao","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Li","sequence":"additional","affiliation":[{"name":"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, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Pang","sequence":"additional","affiliation":[{"name":"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, Zhengzhou, China"},{"name":"The Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Liu","sequence":"additional","affiliation":[{"name":"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, Zhengzhou, China"},{"name":"The Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Kijlstra","sequence":"additional","affiliation":[{"name":"University Eye Clinic Maastricht, Maastricht, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2647-6619","authenticated-orcid":false,"given":"P","family":"Yang","sequence":"additional","affiliation":[{"name":"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, Zhengzhou, China"},{"name":"The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,4,16]]},"reference":[{"key":"2022021407183010500_cei13298-bib-0001","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1136\/bjo.60.3.163","article-title":"Scleritis and episcleritis","volume":"60","author":"Watson","year":"1976","journal-title":"Br J Ophthalmol"},{"key":"2022021407183010500_cei13298-bib-0002","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/S0014-4835(03)00212-4","article-title":"Scleral structure, organisation and disease. 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