ArticleNature genetics2014
Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 3 of them syntheses that pooled it.
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51citing papers in PubMed, 3 pooled it
10.8field-weighted citation impact, top 1% of its field
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Who cites it
51 citing papers in PubMed, 3 syntheses or guidelines pooled it, 101 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.Communications biology · 2020Pooled it
- The association between genetic polymorphisms of the interleukin-23 receptor gene and susceptibility to uveitis: a meta-analysis.BMC ophthalmology · 2017Pooled it
- A randomized non-inferiority trial of therapeutic strategy with immunosuppressants versus biologics for Vogt-Koyanagi-Harada disease.Nature communications · 2023Trial
- Association of TNFSF4 Polymorphisms with Vogt-Koyanagi-Harada and Behcet's Disease in Han Chinese.Scientific reports · 2016Trial
- A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Immunometabolic regulation and tissue-resident immunity in autoimmune uveitis: from genetic susceptibility to the gut-spleen-eye axis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Review
- Vogt-Koyanagi-Harada Syndrome: Clinical Features, Immunogenetic Predisposition and PD-1 Inhibitor-Induced Forms-A Comprehensive Review.Journal of clinical medicine · 2026Review
- First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.Gut · 2025Article
- Cell and tissue reprogramming: Unlocking a new era in medical drug discovery.Pharmacological reviews · 2025Review
- Gut microbiome dysregulation in noninfectious uveitis.Frontiers in immunology · 2025Review
- Transcription factor EGR2 alleviates autoimmune uveitis via activation of GDF15 to modulate the retinal microglial phenotype.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- OR11H1 Missense Variant Confers the Susceptibility to Vogt-Koyanagi-Harada Disease by Mediating Gadd45g Expression.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- A de novo missense mutation in MPP2 confers an increased risk of Vogt-Koyanagi-Harada disease as shown by trio-based whole-exome sequencing.Cellular & molecular immunology · 2023Article
- Plasma-Derived Small Extracellular Vesicles From VKH Patients Suppress T Cell Proliferation Via MicroRNA-410-3p Modulation of CXCL5 Axis.Investigative ophthalmology & visual science · 2023Article
- Clinical features, diagnosis, and management of COVID-19 vaccine-associated Vogt-Koyanagi-Harada disease.Human vaccines & immunotherapeutics · 2023Article
- Kernel-based genetic association analysis for microbiome phenotypes identifies host genetic drivers of beta-diversity.Microbiome · 2023Article
- Genetic association of PRKCD and CARD9 polymorphisms with Vogt-Koyanagi-Harada disease in the Chinese Han population.Human genomics · 2023Article
- Association of Retinal Pigment Epithelium Reflectivity on Optical Coherence Tomography with Recurrence of Vogt-Koyanagi-Harada Disease: A Retrospective Observational Study.Clinical ophthalmology (Auckland, N.Z.) · 2023Article
- Identification of differently expressed mRNAs by peripheral blood mononuclear cells in Vogt-Koyanagi-Harada disease.Genes & diseases · 2022Article
Corrections and comments
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Authors and funding
29 authors at 6 institutions in 2 countries.
Shengping Hou1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Liping Du1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Bo Lei1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Chi Pui PangDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Meifen ZhangDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Wenjuan ZhuangDepartment of Ophthalmology, People's Hospital of Ningxia Hui Autonomous Region, Yinchuan, China.
Minglian ZhangDepartment of Ophthalmology, Xingtai Eye Hospital, Xingtai, China.
Lulin HuangThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.
Bo GongThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China.
Meilin Wang1] Department of Occupational Medicine and Environmental Health, School of Public Health, Nanjing Medical University, Nanjing, China. [2] Center for Cancer Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
Qi Zhang1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Ke Hu1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Qingyun Zhou1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Jian Qi1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Chaokui Wang1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Yuan Tian1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China. [4] University Clinic for Ophthalmology Maastricht, Maastricht, the Netherlands.
Zi Ye1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Liang Liang1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Hongsong Yu1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Hong Li1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Yan Zhou1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Qingfeng Cao1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Yunjia Liu1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Lin Bai1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Dan Liao1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China.
Aize KijlstraUniversity Clinic for Ophthalmology Maastricht, Maastricht, the Netherlands.
Jianfeng Xu1] Center for Cancer Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA. [2] School of Public Health, Fudan University, Shanghai, China.
Zhenglin Yang1] The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. [3].
Peizeng Yang1] The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [2] Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [3] Chongqing Eye Institute, Chongqing, China. [4].
University of Electronic Science and Technology of China · CNChinese Academy of Medical Sciences & Peking Union Medical College · CNChinese University of Hong Kong · CNChongqing Medical University · CNMaastricht University · NLThe Fourth People's Hospital of Ningxia Hui Autonomous Region · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
To identify new genetic risk factors for Vogt-Koyanagi-Harada (VKH) syndrome, we conducted a genome-wide association study of 2,208,258 SNPs in 774 cases and 2,009 controls with follow-up in a collection of 415 cases and 2,006 controls and a further collection of 349 cases and 1,588 controls from a Han Chinese population. We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). The five non-HLA genes were all expressed in human iris tissue. IL23R was also expressed in the ciliary body, and EGR2 was expressed in the ciliary body and choroid. The risk G allele of rs117633859 in the promoter region of IL23R exhibited low transcriptional activation in a cell-based reporter assay and was associated with diminished IL23R mRNA expression in human peripheral blood mononuclear cells.
Indexed as
Chromosomes, Human, Pair 1Chromosomes, Human, Pair 10Genetic LociAdultAgedAsian PeopleCase-Control StudiesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMiddle AgedPolymorphism, Single NucleotidePromoter Regions, GeneticUveomeningoencephalitic Syndrome
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