The role of the C3435T polymorphic marker of the ABCB1 gene in the development of early choroidal melanoma
https://doi.org/10.21516/2072-0076-2020-13-1-51-58
Abstract
The aim of the work is to find out how the ABCB1 C3435T polymorphism gene is associated with the risk of early choroid melanoma (ECM) and to study the genotypes distribution frequency of the ABCB1 polymorphic gene in ECM patients. Material and methods. The prospective study included 26 previously untreated ECM patients (7 men and 19 women) aged 32 to 80 (mean age 59.0 ± 14.3 years). All patients underwent general ophthalmological examinations and special instrumental diagnostics (ultrasound examination, spectral optical coherence tomography, OCT angiography). Monolateral ECM was diagnosed in 25 patients (96 %), bilateral ECM in 1 patient (4 %). In all, 27 eyes were affected. The material for the study was genomic DNA taken from peripheral blood leukocytes from patients with ECM. Genotyping was carried out using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Results. Significant associations were found between (1) the CC genotype and the risk of ECM and (2) between the TT genotype and a low risk of tumor development. A reliable association of the CT genotype of the ABCB1 C3435T polymorphism gene with the presence of orange pigment on the tumoral surface and the familial cancer history of ECM patients was revealed. Conclusion. In the future, the obtained results can be used in the development of innovative approaches predicting the course of melanoma, and in patient screening.
About the Authors
S. V. Saakyan
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Svetlana V. Saakyan – Dr. of Med. Sci., Professor, head of ocular oncology and radiology department.
14/19, Sadovaya Chernogryazskaya, Moscow, 105062
M. R. Khlgatyan
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Mariam R. Khlgatyan – Ph D student, ocular oncology and radiology department.
14/19, Sadovaya Chernogryazskaya, Moscow, 105062
A. Yu. Tsygankov
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Alexander Yu. Tsygankov – Cand. of Med. Sci, researcher, ocular oncology and radiology department.
14/19, Sadovaya Chernogryazskaya, Moscow, 105062
A. M. Burdennyi
Institute of General Pathology and Pathophysiology of Russian Academy of Sciences
Russian Federation
Russian Federation
Alexey M. Burdennyi – Cand. of Biol. Sci., senior researcher, laboratory of pathogenomics and transcriptomics.
8, Baltiyskaya, Moscow, 125315
V. I. Loginov
Institute of General Pathology and Pathophysiology of Russian Academy of Sciences
Russian Federation
Russian Federation
Vitaliy I. Loginov – Cand. of Biol. Sci., leading researcher, laboratory of pathogenomics and transcriptomics.
8, Baltiyskaya, Moscow, 125315
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Review
For citations:
Saakyan S.V., Khlgatyan M.R., Tsygankov A.Yu., Burdennyi A.M., Loginov V.I. The role of the C3435T polymorphic marker of the ABCB1 gene in the development of early choroidal melanoma. Russian Ophthalmological Journal. 2020;13(1):51-58. (In Russ.) https://doi.org/10.21516/2072-0076-2020-13-1-51-58
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