title: [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 1: The impact of CFH and IL-8 genes polymorphism].
abstract: Genetic analysis was performed in patients with subretinal neovascularization (CNV). The results showed significant association of CFH (compliment factor H) gene polymorphism with increase (rs1061170, rs514943 and rs380390) or decrease (rs529825, rs7524776, rs1831281, rs2274700, rs1576340, rs12144939, rs7540032) of CNV development risk. The incidence of IL-8 gene mutation was significantly (p = 0.008) higher in patients after chorioretinitis. Apparently -125 > A polymorphism in patients with chorioretinitis increases risk of CNV development, thus promoting raise of proangiogenic factors concentration in eyes with inflammatory background. The clinical presentation in patients with AMD and myopic disease associated with (-125) A mutation of promoter region of IL-8 gene was similar to that of patients with chorioretinitis. The features are the following: focal pattern, no drusen and RPE detachment, predominantly classic form of CNV (without occult pattern), formation of well-organized newly developed vessels.
authors: M V
authors: MV
authors: Budzinskaia
authors: T V
authors: TV
authors: Pogoda
authors: É V
authors: ÉV
authors: Generozov
authors: E A
authors: EA
authors: Chikun
authors: I V
authors: IV
authors: Shchegoleva
authors: É É
authors: ÉÉ
authors: Kazarian
authors: N S
authors: NS
authors: Galoian
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002825:Chorioretinitis / Q000150:complications / Q000235:genetics*; D002829:Choroid / Q000098:blood supply; D020256:Choroidal Neovascularization / Q000209:etiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D017242:Complement Factor H / Q000235:genetics*; D051056:Complement Inactivating Agents; D005260:Female; D005451:Fluorescein Angiography; D020022:Genetic Predisposition to Disease; D006801:Humans; D016209:Interleukin-8 / Q000235:genetics*; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D047728:Myopia, Degenerative / Q000150:complications / Q000235:genetics*; D009389:Neovascularization, Pathologic / Q000209:etiology / Q000235:genetics / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D012171:Retinal Vessels / Q000473:pathology; D012307:Risk Factors; D058471:Subretinal Fluid / Q000000981:diagnostic imaging
chemical_list: D051056:Complement Inactivating Agents; D016209:Interleukin-8; D017242:Complement Factor H