The role of the <i>C3435T</i> polymorphic marker of the <i>ABCB1</i> gene in the development of early choroidal melanoma

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.

Keywords

• начальная меланома хориоидеи
• молекулярно-генетическое исследование
• ген <i>mdr1/аbсb1</i>