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J Ophthalmic Inflamm Infect. 2014 Jul 22;4:20. doi: 10.1186/s12348-014-0020-1. eCollection 2014.

Influence of molecular genetics in Vogt-Koyanagi-Harada disease.

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Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, 3/F Hong Kong Eye Hospital, 147K Argyle Street, Kowloon ᅟ, Hong Kong.


Vogt-Koyanagi-Harada (VKH) disease is a systemic autoimmune disorder against melanocytes. Recent studies have identified multiple genetic factors that might be associated with the pathogenesis of VKH disease. We performed an electronic database search of PubMed, MEDLINE, and EMBASE, and all relevant papers published up to 13 June 2014 were reviewed. A total of 1,031 publications including articles relevant to the genetics of VKH disease and the references of these articles were reviewed. The review identified a number of genetic factors which might be involved in the pathogenesis of VKH disease, some of which may alter the clinical course of VKH disease. Genes which might be involved in the pathogenesis of VKH disease included genes expressing HLA, complement factor H, interleukins, cytotoxic T-lymphocyte antigen 4 (CTLA-4), killer cell immunoglobulin-like receptors (KIR), programmed cell death 1 (PDCD1), protein tyrosine phosphatase non-receptor 22 (PTPN22), osteopontin, tumor necrosis factor alpha-induced protein 3 (TNFAIP3), macrophage migration inhibitory factor (MIF), and other immune response genes. Further studies to explore the correlation among different genotypes and phenotypes of VKH disease will be useful to shed light on the pathogenesis of uveitis in VKH disease and may facilitate the development of new treatment modalities of uveitis in VKH disease.


Genetics; Human leukocyte antigen; Interleukins; Single-nucleotide polymorphisms; Vogt-Koyanagi-Harada disease

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