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.
Highlights
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
Monolateral ECM was diagnosed in 25 patients (96 %), bilateral ECM in 1 patient (4 %)
The material for the study was genomic DNA taken from peripheral blood leukocytes from patients with ECM
Summary
Частота аллелей и генотипов полиморфного связей не выявлено. Подробный анализ ассоциации маркера C3435T гена АBСB1 в контрольной группе клинических признаков пациентов c генотипами и группе больных с НМХ представлена в таблице 1. гена ABCB1 приведен в таблице 2 Подробный анализ ассоциации маркера C3435T гена АBСB1 в контрольной группе клинических признаков пациентов c генотипами и группе больных с НМХ представлена в таблице 1. Чаще (69 %), чем в контрольной группе (31 %), что может свидетельствовать о высокой специфичности ОБСУЖДЕНИЕ данного аллеля для пациентов с НМХ Выявлена достоверная При первичном обследовании больных метастазы ассоциация генотипа ТТ гена ABCB1 с низким ри- в печени диагностируют до 6,5 % случаев, однако в ском развития опухоли (OR = 0,18 (от 0,04 до 0,84), первые 3 года с момента постановки диагноза выяв-. Частота аллелей и генотипов полиморфного маркера C3435T гена АBСB1 у пациентов с начальной меланомой хориоидеи (НМХ) и в контрольной группе Table 1. The frequency of alleles and genotypes of the ABCB1 C3435T polymorphism gene in цаемость), который играет ключевую роль во множественной лекарственной резистентности patients with early choroidal melanoma (ECM) and in control groups included in the study злокачественных клеток [15, 20]
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