№ 3 / 2014 / 18-23

Polymorphism of promoter sites of matrix metalloproteinase genes (MMP2, MMP3, MMP9) at age-related macular degeneration among representatives of senior age groups of the Siberia Caucasian population

Author: Konenkov V.I.¹, Shevchenko A.V.², Prokof`ev V.F.³, Dudnikova L.V.⁴, Kashkina N.Yu.⁵, Chernykh D.V.⁶

Abstract

One of the basic parts of age-related macular degeneration (AMD) pathogeneses alongside with processes of ageing retinal cells and frustration of visual cycle are dystrophic changes in intercellular matrix. Maintenance of normal extra cellular matrix between cells epithelium and Bruch’s membrane occurs due to regulation of metalloproteinase MMP-2, ММР 3, ММР9 activity. The analysis of association between MMP promoter genes polymorphism and AMD development has been carried out considering that regulation of MMP expression occurs first of all on the transcriptions level. Materials and methods. 52 patients with AMD were examined. The group of comparison was made by 49 people. Polymorphism of promoter genes ММР 2 1306 С→Т, ММР3-1171 5А→6А, ММР 9-1562 С→Т was investigated with restriction analysis of amplified products. Results and discussions. Age features in distribution of genotypes frequencies of the analyzed genes associated with risk of development AMD are revealed. Besides, the association of ММР9 polymorphism with the pathology has the dual character: ММР9 СС genotype is the resistant factor in «younger» age group, but it is the factor of predisposition to disease in the «senior» age group. That probably can testify to indirect character of polymorphism association ММР with AMD. Thus, the received pilot data testify for the benefit of necessity of the further research of polymorphism matrix metalloproteinase associations with AMD and for inclusion into the analysis of polymorphic positions of the genes which products is connected are involved in the disease development.

Key words

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About Authors (Correspondence):

Konenkov V.I. – doctor of medical sciences, professor, academician of RAS, head of the laboratory of clinical immunogenetics, director, e-mail: konenkov@soramn.ru

Shevchenko A.V. – candidate of biologic sciences, senior researcher of laboratory for clinical immunogenetics, e-mail: shalla64@mail.ru

Prokof`ev V.F. – candidate of medical sciences, leading researcher of laboratory for clinical immunogenetics, e-mail: vprok@ngs.ru

Dudnikova L.V. – ophthalmologist

Kashkina N.Yu. – ophthalmologist

Chernykh D.V. – ophthalmologist

Full Text

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Received: 10/02/2015