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Ekaterina Chikun, M.V. Budzinskaya, T.V. Pogoda, I.D. Strelkova; The Effects of CFH, HTRA1 and IL-8 Genes Polymorphism on Clinical Picture of Choroid Neovascular Membrane. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2393.
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Mutations in complement factor H (CFH), HtrA serine peptidase 1 (HTRA1) and interleukin 8 (IL-8) genes are associated with choroidal neovascular membrane (CNM). The purpose of the present research was to analyze the role of CFH, HTRA 1 and IL-8 genes polymorphisms in development of CNM and determine special features of clinical picture in patients with CNM.
Three groups of patients with CNM: 1) 69 patients with wet age-related macular degeneration (AMD); 2) 40 patients with complicated myopia; 3) 17 patients after chorioretinitis were observed. The control group included 370 people. We performed genotyping 15 polymorphisms of CFH gene, G(-625)A polymorphism of HTRA1 gene and T(-251)A polymorphism of IL-8 gene via minisequencing reactions followed by detection of it’s products with MALDI-TOF mass-spectrometry method. Ophthalmologic examination included fluorescent angiography (FA) and optical coherence tomography (OCT).
rs1061170 (Y402H), rs514943 and rs380390 polymorphisms of the CFH gene and rs11200638 (G(-625)A) of HTRA1 gene were found to be significant for patients in group with AMD only. However, the clinical features of CNM in patients homozygous for analyzed mutations were similar for patients in all groups under study. Patients with homozygous 402H mutation in CFH gene characterized by bilateral injury, massive lipid exudation and retinal pigment epithelium (RPE) detachments; whereas patients with homozygous (-251)A mutation of IL-8 gene had focal lesions, had no drusen and RPE detachment. The typical clinical features in patients with of homozygous mutation (-625)A of HTRA1 gene were a short course between exudation and fibrosis (on average 2-3 months) and pigment deposition. In 5 cases when homozygous mutations in all three genes were present CNM was bilateral, severe and refractory to the therapy.
Clinical appearance of CNM is often determined by genetic factors. Presence of homozygous mutations 402H in CFH gene, (-625)A in HTRA1 gene and (-251)A in IL-8 gene in patients with CNM appears to determine specific clinical features of the disease. Therefore, genetic analysis of polymorphisms associated with CNM could be useful for choosing appropriate therapy and prognosis assessment.
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