Analysis of carrying clinically significant allelic variants of TPMT and DPYD genes associated with the response to drug therapy in cancer practice among 9 ethnic groups of the Russian Federation

Autor: K. B. Mirzaev, D. S. Fedorinov, K. A. Akmalova, Sh. P. Abdullaev, A. A. Kachanova, Zh. A. Sozaeva, E. A. Grishina, G. N. Shuev, E. Yu. Kitaeva, V. V. Shprakh, S. Sh. Suleymanov, L. Z. Bolieva, M. S-H. Sozaeva, S. M. Zhuchkova, N. E. Gimaldinova, E. E. Sidukova, I. S. Burashnikova, A. A. Shikaleva, K. G. Zabudskaya, D. A. Sychev
Jazyk: ruština
Rok vydání: 2020
Předmět:
Zdroj: Терапевтический архив, Vol 92, Iss 8, Pp 43-51 (2020)
Druh dokumentu: article
ISSN: 0040-3660
2309-5342
00403660
DOI: 10.26442/00403660.2020.08.000719
Popis: Aim. To study the peculiarities of carrying clinically significant allelic variants of TPMT and DPYD genes associated with the response to drug therapy in cancer practice among 9 ethnic groups of the Russian Federation. Materials and methods. The study included 1446 conditionally healthy volunteers from 9 ethnic groups. Carriage of polymorphic TPMT and DPYD gene markers was detected by the Real-Time PCR (polymerase chain reaction) method. Results. In all ethnic groups, the distribution of genotypes and alleles matched the equilibrium of Hardy-Weinberg. TPMT*3A (rs1800460) and TPMT*3C (rs1142345) were observed in heterozygous state in all investigated ethnic groups. In the Kabardinian group (n=204) the frequency of the TPMT*3A minor allele (MAF, %) was 2.94%; Balkars (n=200) 1.25%; Ossetians (n=239) 1.67%; Chuvashes (n=238) 1.89%: Mari (n=206) 1.21%; Tatars (n=141) 1.77%; Russians (n=134) 4.85%. The frequency of the TPMT*3C minor allele (MAF, %) in the Kabardinian group (n=204) MAF was 4.90%; Balkars (n=200) 1. 75%; Buryats (n=114) 0.44%; Ossetians (n=239) 1.88%; Chuvashes (n=238) 1.68%: Mari (n=206) 1.21%; Tatars (n=141) 1.42%; Russians (n=134) 4.48%. The results of the analysis of DPYD*2A polymorphism (rs3918290) demonstrated ethnic peculiarities of distribution. In the heterozygous state it was found only in the groups of Kabardins (n=204, MAF 1.22%), Balkars (n=200, MAF 2.00%), and Ossetians (n=239, MAF 0.63%). Conclusion. The results obtained in the study will be useful for developing personalized algorithms of antitumor therapy in cancer practice, including those aimed at increasing the safety of chemotherapy.
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