title: [Contemporary pharmacogenetic approaches to the treatment of age-related macular degeneration].
abstract: A study on the role of CFH, HTRA and IL-8 gene polymorphism in age-related macular degeneration (AMD) development has been conducted. At the first stage of the study genetic testing was done in 69 patients with exudative AMD and 370 random Moscow citizens without the disease. The goal of the second stage was to determine the influence of gene polymorphism on patient's response to endovitreal ranibizumab treatment. For that, visual acuity and foveal thickness were assessed before and after ranibizumab injections in 120 patients with wet AMD. All patients were genotyped for the genes of interest. The results showed that the presence of homozygous 402H polymorphism in CFH gene, as well as homozygous (-625)A mutation in HTRA1 gene, determines certain clinical presentations. Moreover, visual acuity below 0.1 and presence of 402H, (-625)A and (-251)A alleles in both copies of all three genes (CFH, HTRA and IL-8) are negative predictors of disease severity and antiangiogenic treatment response.
authors.forename: M V
authors.initials: MV
authors.lastname: Budzinskaia
authors.forename: T V
authors.initials: TV
authors.lastname: Pogoda
authors.forename: E V
authors.initials: EV
authors.lastname: Generozov
authors.forename: E A
authors.initials: EA
authors.lastname: Chikun
authors.forename: I V
authors.initials: IV
authors.lastname: Gurova
authors.forename: I V
authors.initials: IV
authors.lastname: Shchegoleva
authors.forename: M V
authors.initials: MV
authors.lastname: Sizova
mesh_terms: D000483:Alleles; D061067:Antibodies, Monoclonal, Humanized / Q000008:administration & dosage*; D017242:Complement Factor H / Q000235:genetics / Q000627:therapeutic use*; D051056:Complement Inactivating Agents / Q000627:therapeutic use; D004247:DNA / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006720:Homozygote; D006801:Humans; D016209:Interleukin-8 / Q000235:genetics / Q000627:therapeutic use*; D058449:Intravitreal Injections; D008268:Macular Degeneration / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D008297:Male; D010597:Pharmacogenetics / Q000379:methods*; D011110:Polymorphism, Genetic; D000069579:Ranibizumab; D012697:Serine Endopeptidases / Q000235:genetics / Q000627:therapeutic use*; D014792:Visual Acuity
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D051056:Complement Inactivating Agents; D016209:Interleukin-8; D017242:Complement Factor H; D004247:DNA; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases; D000069579:Ranibizumab