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[Contemporary pharmacogenetic approaches to the treatment of age-related macular degeneration].

Authors: M V, Budzinskaia; T V, Pogoda; E V, Generozov; E A, Chikun; I V, Gurova; I V, Shchegoleva; M V, Sizova;

[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.

Keywords

Male, Polymorphism, Genetic, Fundus Oculi, Homozygote, Interleukin-8, Serine Endopeptidases, Visual Acuity, DNA, High-Temperature Requirement A Serine Peptidase 1, Antibodies, Monoclonal, Humanized, Macular Degeneration, Complement Inactivating Agents, Pharmacogenetics, Complement Factor H, Ranibizumab, Intravitreal Injections, Humans, Female, Fluorescein Angiography, Alleles

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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Average
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