POLYMORPHISM OF UGT1A1 GENE IN PATIENTS WITH COLORECTAL CANCER OF THE SOUTH OF RUSSIA: RESULTS OF PILOT RESEARCH

DOI: https://doi.org/None

Vodolazhsky D.I., Dvadnenko K.V., Timoshkina N.N., Abramova N.A., Maksimov A.Yu., Vladimirova L.Yu.

Introduction. Irinotekan is widely used in the treatment of oncological diseases and allows to achieve the objective answer in 35–70% of cases depending on the applied schedule of the treatment. Individual toxicity of a preparation for patients is determined by the existence/ absence of germinal mutations in theuridine diphosphate-gluсuronosyltransferase 1A (UGT1A1) gene. The aim of the study. Research of frequencies of polymorphisms of UGT1A1*28 and UGT1A1*6A in patients of the south of Russia (SR), and also the comparison of the obtained data with similar characteristics of other populations. Methods. Research of polymorphisms by a pyrosequencing in 38 patients with colorectal cancer. Results. In the cohort of SR patients the frequency of the occurrence of alleles of UGT1A1*28 and UGT1A1*6A accounted for 0,37 and 0,01, respectively. Most often a heterozygotic genotype (TA)6/(TA)7 was determined by a polymorphic marker of UGT1A1*28 (with a frequency of 0,474), the most rare genotype was homozygous (TA)7/(TA)7 (with a frequency of 0,138). In the case of a polymorphic marker of UGT1A1*6 in the studied cohort of patients carriers of a homozygous (wild) genotype of G/G prevailed (with a frequency of 0,974). The mutant genotype of A/A, characteristic for Asian populations, wasn't found by UGT1A1*6 among patients of SR. Cohorts of patients of Japan and China authentically differ from populations of SR, Europe and Uzbekistan on occurrence frequency of UGT1A1*28 (p
Keywords: 
uridinediphosphate glucuronosyltransferase (UGT1A1), pyrosequencing, irinotecan, genetic polymorphism

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