Identification of immune hub genes participating in the pathogenesis and progression of Vogt-Koyanagi-Harada disease

Wang, Yiqi; Ju, Yahan; Wang, Jiajing; Sun, Ning; Tang, Zhimin; Gao, Huiqin; Gu, Ping; Ji, Jing

doi:10.3389/fimmu.2022.936707

Cited by 2 publications

(2 citation statements)

References 42 publications

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“…KLRC3 is a member of the natural killer group (NKG) 2, which can specifically regulate humoral and cellular immunity. Although the role of KLRC3 in APS and RIF pathogenesis has not yet been investigated, it is associated with the development of other autoimmune diseases, metabolic diseases, and tumors (55)(56)(57). Downregulation of KLRC3 may lead to abnormal expression of the NKG2E receptor, which results in insufficient NK cell activation and defective NK cell function (56).…”

Section: Discussionmentioning

confidence: 99%

Identification of MARK2, CCDC71, GATA2, and KLRC3 as candidate diagnostic genes and potential therapeutic targets for repeated implantation failure with antiphospholipid syndrome by integrated bioinformatics analysis and machine learning

Zhang,

Ge,

Zhang

et al. 2023

Front. Immunol.

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BackgroundAntiphospholipid syndrome (APS) is a group of clinical syndromes of thrombosis or adverse pregnancy outcomes caused by antiphospholipid antibodies, which increase the incidence of in vitro fertilization failure in patients with infertility. However, the common mechanism of repeated implantation failure (RIF) with APS is unclear. This study aimed to search for potential diagnostic genes and potential therapeutic targets for RIF with APS.MethodsTo obtain differentially expressed genes (DEGs), we downloaded the APS and RIF datasets separately from the public Gene Expression Omnibus database and performed differential expression analysis. We then identified the common DEGs of APS and RIF. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were performed, and we then generated protein-protein interaction. Furthermore, immune infiltration was investigated by using the CIBERSORT algorithm on the APS and RIF datasets. LASSO regression analysis was used to screen for candidate diagnostic genes. To evaluate the diagnostic value, we developed a nomogram and validated it with receiver operating characteristic curves, then analyzed these genes in the Comparative Toxicogenomics Database. Finally, the Drug Gene Interaction Database was searched for potential therapeutic drugs, and the interactions between drugs, genes, and immune cells were depicted with a Sankey diagram.ResultsThere were 11 common DEGs identified: four downregulated and seven upregulated. The common DEG analysis suggested that an imbalance of immune system-related cells and molecules may be a common feature in the pathophysiology of APS and RIF. Following validation, MARK2, CCDC71, GATA2, and KLRC3 were identified as candidate diagnostic genes. Finally, Acetaminophen and Fasudil were predicted as two candidate drugs.ConclusionFour immune-associated candidate diagnostic genes (MARK2, CCDC71, GATA2, and KLRC3) were identified, and a nomogram for RIF with APS diagnosis was developed. Our findings may aid in the investigation of potential biological mechanisms linking APS and RIF, as well as potential targets for diagnosis and treatment.

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Section: Discussionmentioning

confidence: 99%

Identification of MARK2, CCDC71, GATA2, and KLRC3 as candidate diagnostic genes and potential therapeutic targets for repeated implantation failure with antiphospholipid syndrome by integrated bioinformatics analysis and machine learning

Zhang,

Ge,

Zhang

et al. 2023

Front. Immunol.

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“…Vogt–Koyanagi–Harada (VKH) disease is a rare bilateral granulomatous uveitis involving pigmented structures [ 1 ]. Although the precise etiology of VKH disease is still largely unknown, accumulating previous studies have suggested that genetic factors play an essential role in VKH disease development [ 2 , 3 ]. Familial occurrence of VKH disease is rare, while authors still provide some evidence to suggest that the condition may be inherited [ 4 – 6 ].…”

Section: Introductionmentioning

confidence: 99%

Successive onset of Vogt-Koyanagi-Harada syndrome in father and son

Sun

Zhang

et al. 2023

BMC Ophthalmol

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Background Vogt‒Koyanagi‒Harada (VKH) disease is a multifactorial systemic autoimmune disorder against melanocytes that is characterized by panuveitis. Familial occurrence of VKH disease is rare. Here, we report two cases of a father and his son with characteristic manifestations of VKH disease. Case presentation A 53-year-old male with typical clinical symptoms of VKH disease was referred to Tangshan Eye Hospital. Examination showed the presence of ciliochoroidal effusion and exudative retinal detachment in both eyes. The patient was given intravenous methylprednisolone 120 mg for 2 days and intravenous methylprednisolone 80 mg for 1 day followed by 48 mg (1 mg/kg/day) oral methylprednisolone daily, accompanied by oral azathioprine 50 mg daily. Cycloplegic agent (0.5% tropicamide three times daily [TID]) was added. The patient was free of symptoms and recurrence within more than 1-year-follow-up period, the best corrected visual acuity (BVCA) was increased and maintained in both eyes with complete resolution of subretinal fluid. One year and nine months later, case 2 (his son) also presented with the typical clinical symptoms of VKH disease at 29 years of age. The son also recovered from VKH disease after routine and standard treatment. Conclusions To the best of our knowledge, this is the first VKH disease case report of a father-son relationship. Although genetic factors have been demonstrated to be involved in the pathogenesis of VKH disease, the different inheritance modes of VKH patients need to be further explored and studied.

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Identification of immune hub genes participating in the pathogenesis and progression of Vogt-Koyanagi-Harada disease

Cited by 2 publications

References 42 publications

Identification of MARK2, CCDC71, GATA2, and KLRC3 as candidate diagnostic genes and potential therapeutic targets for repeated implantation failure with antiphospholipid syndrome by integrated bioinformatics analysis and machine learning

Identification of MARK2, CCDC71, GATA2, and KLRC3 as candidate diagnostic genes and potential therapeutic targets for repeated implantation failure with antiphospholipid syndrome by integrated bioinformatics analysis and machine learning

Successive onset of Vogt-Koyanagi-Harada syndrome in father and son

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