Association of a PDCD1 Polymorphism With Sympathetic Ophthalmia in Han Chinese

Deng, Jing; Hu, Jiayue; Tan, Handan; Su, Guannan; Cao, Qingfeng; Huang, Xinyue; Kijlstra, Aize; Yang, Peizeng

doi:10.1167/iovs.17-22195

Cited by 12 publications

(5 citation statements)

References 39 publications

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“…Transcription factors are considered to be the major mediator of sequence-dependent regulation of gene expression (17,18). † Odds ratio (OR) and 95% confidence interval (95% CI) for the minor allele (A1).…”

Section: Resultsmentioning

confidence: 99%

“…Transcription factors are considered to be the major mediator of sequence‐dependent regulation of gene expression (17,18). Therefore, we next predicted whether these 3 SNPs (rs1250569, rs1250568, and rs1250565) overlap with transcription factor binding sites using the JASPAR (2018) database (19) and found that 8 transcription factors (PAX6, ELF5, IRF1, GABPA, ELF3, IRF7, ETV3, and TEAD1) were predicted to bind to only 1 of the alleles with a score of >9 (Supplementary Table 7, available on the Arthritis & Rheumatology website at http://onlinelibrary.wiley.com/doi/10.1002/art.41998).…”

Section: Resultsmentioning

confidence: 99%

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Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study

Zhong

Zhou

et al. 2022

Arthritis & Rheumatology

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Objective To explore susceptibility loci associated with uveitis in Behçet's disease (BD). Methods We conducted a 2‐stage study, consisting of a genome‐wide association study (GWAS) stage and a replication stage, in a Chinese population. The GWAS stage included 978 cases with BD‐related uveitis and 4,388 controls, and the replication stage included 953 cases with BD‐related uveitis and 2,129 controls. Luciferase reporter analysis and chromatin immunoprecipitation assay were performed to explore the functional role of susceptibility genetic variants near ZMIZ1. Results Three independent HLA alleles (HLA–B51 [3.75 × 10−190], HLA–A26 [1.50 × 10−18], and HLA–C0704 [3.44 × 10−16]) were identified as having a genome‐wide association with BD‐related uveitis. In the non‐HLA region, in addition to confirming 7 previously reported loci, we identified 22 novel susceptibility variants located in 16 loci. Meta‐analysis of the Chinese cohort consisting of 1,931 cases and 6,517 controls and a published Japanese cohort of 611 cases and 737 controls showed genome‐wide significant associations with ZMIZ1, RPS6KA4, IL10RA, SIPA1‐FIBP‐FOSL1, and VAMP1. Functional experiments demonstrated that genetic variants of ZMIZ1 were associated with enhanced transcription activity and increased expression of ZMIZ1. Conclusion This GWAS study identified a novel set of genetic variants that are associated with susceptibility to uveitis in BD. These findings enrich our understanding of the contribution of genetic factors to the disease.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study

Zhong

Zhou

et al. 2022

Arthritis & Rheumatology

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“…Sympathetic ophthalmia is an autoimmune response to the exposure of ocular tissue antigens, and is associated with genetic susceptibility. Although PSO and Vogt–Koyanagi–Harada disease have similar human leukocyte antigen genotypes [ 17 , 18 ], Deng et al [ 19 ] suggested that these two diseases have different single nucleotide polymorphism susceptibility loci. In this study, we found that the latent period was significantly longer in patients with MFC than in patients with SRD.…”

Section: Discussionmentioning

confidence: 99%

Clinical classification, visual outcomes, and optical coherence tomographic features of 48 patients with posterior sympathetic ophthalmia

Zhuang

Zhang

et al. 2022

Orphanet J Rare Dis

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Background To investigate the clinical manifestations, visual outcomes and optical coherence tomographic (OCT) features of patients with posterior sympathetic ophthalmia (PSO). Methods We performed a retrospective review of 48 patients diagnosed with PSO between January 2013 and December 2019. We compared the clinical and OCT features among different clinical types of PSO. Results PSO could be classified into two types according to whether the fundus exhibited serous retinal detachment (SRD) or multifocal choroiditis (MFC). There were 41 patients (85.4%) with SRD and 7 patients (14.6%) with MFC. The latent period of patients with MFC was significantly longer than that of patients with SRD (P = 0.002). The final visual acuity of patients with MFC was significantly worse than that of patients with SRD (P = 0.0001). In patients with acute SRD, OCT revealed that the mean height of retinal detachment in the fovea was 528.8 ± 437.5 μm. After treatment, the retina reattached in all patients and the band structures of the outer retina were restored in most patients (92.7%). In patients with acute MFC, the OCT images revealed inflammatory lesions on the retinal pigment epithelium layer. After treatment, the OCT images showed hyperreflective fibrosis of the lesions and loss of the outer retinal band structures in all patients. Conclusions We found that PSO could be classified according to the presence of SRD or MFC. The visual prognosis differed significantly between these types of PSO. OCT imaging is useful for clinical classification and monitoring of retinal changes after treatment.

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“…Kilmartin et al [7] further corroborated a genetic basis for the disease, showing strong associations with antigens such as HLA-DRB1∗04 and DQA1∗03 [6,7]. Recently, other genetic markers have been associated, such as the PDCD1 single nucleotide polymorphism contributing to susceptibility in the Han Chinese population [4,8]. Additional studies with larger patient groups are needed to further elucidate the genetics associated with sympathetic ophthalmia, as it may help clarify the unknown components of the disease pathophysiology and help identify individuals with a higher risk for disease development.…”

Section: Advances In Understanding Of Pathophysiology Of Sympathetic ...mentioning

confidence: 99%

Recent advances in diagnosis and management of sympathetic ophthalmia

Fromal

Swaminathan

Soares

et al. 2021

Current Opinion in Ophthalmology

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Purpose of reviewSympathetic ophthalmia is a bilateral granulomatous uveitis that occurs following unilateral trauma or surgery and is sight-threatening in the contralateral eye. Despite significant potential morbidity, disease remains poorly understood. Variable presentations and clinical courses, as well as a lack of definitive diagnostic laboratory tests can complicate the diagnosis and result in delayed treatment, which can beget permanent vision loss. This review focuses on recent advances in areas of pathophysiology, classification, diagnosis and treatment. Recent findingsSympathetic ophthalmia is thought to involve a cell-mediated immune response to retinal and uveal antigens exposed through trauma or surgery. Multiple mechanisms have been implicated, including activation of the interleukin-23/IL-17 pathway. Ongoing emphasis is placed on early disease recognition and prompt treatment with multimodal imaging. Multiple authors advocate for the routine use of optical coherence tomography (OCT) for screening and disease monitoring. Systemic steroids and steroids sparingimmunosuppressive agents remain the mainstay of treatment.

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Association of a PDCD1 Polymorphism With Sympathetic Ophthalmia in Han Chinese

Abstract: This study shows that only PDCD1/rs2227981 contributes to the genetic susceptibility of SO, and that the other 23 susceptibility loci of VKH disease are probably not involved in the pathogenesis of this disease.

Cited by 12 publications

References 39 publications

Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study

Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study

Clinical classification, visual outcomes, and optical coherence tomographic features of 48 patients with posterior sympathetic ophthalmia

Recent advances in diagnosis and management of sympathetic ophthalmia

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