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OR11H1 Missense Variant Confers the Susceptibility to Vogt-Koyanagi-Harada Disease by Mediating Gadd45g Expression

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机构: [1]Chongqing Med Univ, Chongqing Eye Inst, Chongqing Branch Natl Clin Res Ctr Ocular Dis, Chongqing Key Lab Ophthalmol,Affiliated Hosp 1, Chongqing 400042, Peoples R China [2]Capital Med Univ, Beijing Tongren Hosp, Dept Lab Med, Beijing 100005, Peoples R China [3]Beijing Novogene Bioinformat Technol Co Ltd, Beijing 100600, Peoples R China [4]Capital Med Univ, Beijing Tongren Eye Ctr, Beijing Key Lab Ophthalmol & Visual Sci, Beijing Inst Ophthalmol,Beijing Tongren Hosp, Beijing 100730, Peoples R China
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关键词: GADD45G RPE uveitis Vogt-Koyanagi-Harada disease whole-exome sequencing

摘要:
Vogt-Koyanagi-Harada (VKH) disease is a severe autoimmune disease. Herein, whole-exome sequencing (WES) study are performed on 2,573 controls and 229 VKH patients with follow-up next-generation sequencing (NGS) in a collection of 2,380 controls and 2,278 VKH patients. A rare c.188T>C (p Val63Ala) variant in the olfactory receptor 11H1 (OR11H1) gene is found to be significantly associated with VKH disease (rs71235604, P-combined = 7.83 x 10(-30), odds ratio = 3.12). Functional study showes that OR11H1-A63 significantly increased inflammatory factors production and exacerbated barrier function damage. Further studies using RNA-sequencing find that OR11H1-A63 markedly increased growth arrest and DNA-damage-inducible gamma (GADD45G) expression. Moreover, OR11H1-A63 activates the MAPK and NF-kappa B pathways, and accelerates inflammatory cascades. In addition, inhibiting GADD45G alleviates inflammatory factor secretion, likely due to the regulatory effect of GADD45G on the MAPK and NF-kappa B pathways. Collectively, this study suggests that the OR11H1-A63 missense mutation may increase susceptibility to VKH disease in a GADD45G-dependent manner.

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出版当年[2023]版:
大类 | 1 区 材料科学
小类 | 1 区 化学:综合 1 区 材料科学:综合 2 区 纳米科技
最新[2023]版:
大类 | 1 区 材料科学
小类 | 1 区 化学:综合 1 区 材料科学:综合 2 区 纳米科技
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出版当年[2022]版:
Q1 CHEMISTRY, MULTIDISCIPLINARY Q1 MATERIALS SCIENCE, MULTIDISCIPLINARY Q1 NANOSCIENCE & NANOTECHNOLOGY
最新[2023]版:
Q1 CHEMISTRY, MULTIDISCIPLINARY Q1 MATERIALS SCIENCE, MULTIDISCIPLINARY Q1 NANOSCIENCE & NANOTECHNOLOGY

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第一作者机构: [1]Chongqing Med Univ, Chongqing Eye Inst, Chongqing Branch Natl Clin Res Ctr Ocular Dis, Chongqing Key Lab Ophthalmol,Affiliated Hosp 1, Chongqing 400042, Peoples R China
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通讯机构: [1]Chongqing Med Univ, Chongqing Eye Inst, Chongqing Branch Natl Clin Res Ctr Ocular Dis, Chongqing Key Lab Ophthalmol,Affiliated Hosp 1, Chongqing 400042, Peoples R China [4]Capital Med Univ, Beijing Tongren Eye Ctr, Beijing Key Lab Ophthalmol & Visual Sci, Beijing Inst Ophthalmol,Beijing Tongren Hosp, Beijing 100730, Peoples R China
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