ORIGINAL RESEARCH
Ophthalmology
doi: 10.25005/2074-0581-2026-28-2-386-392
THE INFLUENCE OF GENETIC POLYMORPHISMS ON THE RISK OF AGE-RELATED MACULAR DEGENERATION: THE ROLE OF CYP AND eNOS

D.YU. PLOTNIKOV1, D.M. NIKOLAEVA2

1Central Research Laboratory, Kazan State Medical University, Kazan, Russian Federation
2Department of Preventive Medicine, Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, Kazan, Russian Federation

Objective: o study genetic associations of age-related macular degeneration (AMD) with polymorphisms of the MMP9, CYP, and eNOS genes using modern molecular genetic methods, in order to assess their contribution to disease development and identify possible prognostic markers.

Methods: The study included 60 patients with AMD and 100 healthy subjects as a control group. Genetic polymorphisms were assessed using polymerase chain reaction followed by sequencing (PCR-SSP). The following polymorphisms were included in the study: MMP9 (rs17576), CYP (rs1799998), and eNOS (rs2070744, rs1549758). Standard statistical methods were used to evaluate associations, including calculation of odds ratios (ORs) and 95% confidence intervals (95% CIs).

Results: A statistically significant association was found between the CYP (rs1799998) polymorphism and a reduced risk of AMD development (OR=0.53; 95% CI: 0.29-0.95; p=0.016). The TT genotype of the eNOS (rs2070744) polymorphism was associated with an increased risk of the disease in the recessive model (OR=2.07; 95% CI: 1.10-3.91; p=0.026). The MMP9 (rs17576) and eNOS (rs1549758) polymorphisms showed no significant associations with AMD (p>0.05). For MMP9, a tendency toward a higher frequency of the A allele was observed in patients with AMD; however, the difference did not reach statistical significance.

Conclusion: The results obtained emphasize the importance of genetic polymorphisms, such as CYP (rs1799998) and eNOS (rs2070744), as potential risk markers for AMD. The identified associations require further confirmation in larger samples to assess their prognostic value and to develop personalized approaches to disease prevention and treatment.

Keywords: Age-related macular degeneration, genetic polymorphisms, CYP, eNOS, oxidative stress.

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Authors' information:

Plotnikov Denis Yurievich,
Candidate of Medical Sciences, Head of the Integrative Epidemiology Laboratory, Central Research Laboratory, Kazan State Medical University
Researcher ID: AAO-3132-2021
Scopus ID: 57202400688
ORCID ID: 0000-0002-9950-8992
Author ID: 1192580
E-mail: denis.plotnikov@kazangmu.ru

Nikolaeva Diana Mikhaylovna,
Medical Resident in Genetics Laboratory, Department of Preventive Medicine, Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University
Researcher ID: NEU-6793-2025
ORCID ID: 0009-0007-0142-4349
E-mail: dianaaa.nikolaeva.1999@mail.ru

Information about support in the form of grants, equipment, medications

The study was supported by a grant from the Academy of Sciences of the Republic of Tatarstan, provided to young PhD-holders – postdoctoral researchers – for the purpose of defending a doctoral dissertation, conducting research work, and performing employment duties in scientific and educational institutions of the Republic of Tatarstan within the framework of the State Program of the Republic of Tatarstan “Scientific and Technological Development of the Republic of Tatarstan”. The authors did not receive financial support from manufacturers of medicines and medical equipment

Conflicts of interest: No conflict

Address for correspondence:

Plotnikov Denis Yurievich
Candidate of Medical Sciences, Head of the Integrative Epidemiology Labora- tory, Central Research Laboratory, Kazan State Medical University

420012, Russian Federation, Kazan, Butlerov str., 49

Tel.: +7 (843) 2388371

E-mail: denis.plotnikov@kazangmu.ru


This work is licensed under a Creative Commons Attribution 4.0 International License.

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