title: [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 2: The impact of HTRA and VEGF genes polymorphism].
abstract: A detailed analysis of influence of HTRA (serine peptidase) and VEGF (vascular endothelial growth factor) genes mutations is presented. The presence of one gene copy with allele of A- polymorphism rs1120638 of HTRA1 gen, T- polymorphism rs10490924 and de11443in54 of ARMS2 gene increases the risk of CNV in patients with AMD. The feature of clinical presentation in patients with CNV associated with (-625) A mutation of promoter region of HTRA1 gene in two chromosomes was fulminant course of the disease from exudative to scarring processes with fibrous tissue formation not just with sub-, but also intra- and preretinal localization. Genetic screening showed that combination of studied mutations (402H, (-625) A and (-251) A in both gene copies of CFH, HTRA and IL-8) results in the most severe and rapidly progressing form of the disease. Two new mutations were revealed in promoter region of VEGF gene: G > A replacement in position of (-72) nucleotide from transcription start and G > A replacement in 5'-nontranslated region of the 1st gene exon in position of (+31) nucleotide from transcription start.
authors: M V
authors: MV
authors: Budzinskaia
authors: T V
authors: TV
authors: Pogoda
authors: I D
authors: ID
authors: Strelkova
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: D002829:Choroid / Q000098:blood supply; D020256:Choroidal Neovascularization / Q000209:etiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D017242:Complement Factor H / Q000235:genetics; 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 / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012171:Retinal Vessels / Q000473:pathology; D012697:Serine Endopeptidases / Q000235:genetics*; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*; D014792:Visual Acuity
chemical_list: D016209:Interleukin-8; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D017242:Complement Factor H; D012697:Serine Endopeptidases