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
- Authors: Mirzaev K.B.1, Fedorinov D.S.1, Akmalova K.A.1, Abdullaev S.P.1, Kachanova A.A.1, Sozaeva Z.A.1, Grishina E.A.1, Shuev G.N.1, Kitaeva E.Y.2, Shprakh V.V.2, Suleymanov S.S.3, Bolieva L.Z.4, Sozaeva M.S.5, Zhuchkova S.M.6, Gimaldinova N.E.7, Sidukova E.E.8, Burashnikova I.S.9, Shikaleva A.A.9, Zabudskaya K.G.10, Sychev D.A.1
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Affiliations:
- Russian Medical Academy of Continuous Professional Education
- Irkutsk State Medical Academy of Postgraduate Education – branch of Russian Medical Academy of Continuous Professional Education
- Saiko Russian-Japanese Medical Center
- North Ossetia State Medical Academy
- Republican Clinical Hospital
- Republican Clinical Oncology Center
- Ulianov Chuvash State University
- Kozmodemyansk Interdistrict Hospital
- Kazan State Medical Academy – branch of Russian Medical Academy of Continuous Professional Education
- Blokhin National Medical Research Center of Oncology
- Issue: Vol 92, No 8 (2020)
- Pages: 43-51
- Section: Original articles
- URL: https://journals.rcsi.science/0040-3660/article/view/43540
- DOI: https://doi.org/10.26442/00403660.2020.08.000719
- ID: 43540
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Abstract
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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##article.viewOnOriginalSite##About the authors
K. B. Mirzaev
Russian Medical Academy of Continuous Professional Education
Author for correspondence.
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-9307-4994
к.м.н., с.н.с., зав. отд. персонализированной медицины НИИ молекулярной и персонализированной медицины ФГБОУ ДПО РМАНПО
Russian Federation, MoscowD. S. Fedorinov
Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0001-5516-7367
ординатор каф. онкологии и паллиативной медицины ФГБОУ ДПО РМАНПО
Russian Federation, MoscowK. A. Akmalova
Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0003-3505-8520
м.н.с. отд. молекулярной медицины НИИ молекулярной и персонализированной медицины ФГБОУ ДПО РМАНПО
Russian Federation, MoscowSh. P. Abdullaev
Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0001-9001-1499
м.н.с. отд. молекулярной медицины НИИ молекулярной и персонализированной медицины ФГБОУ ДПО РМАНПО
Russian Federation, MoscowA. A. Kachanova
Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0003-3194-4410
м.н.с. отд. молекулярной медицины НИИ молекулярной и персонализированной медицины ФГБОУ ДПО РМАНПО
Russian Federation, MoscowZh. A. Sozaeva
Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0001-5166-7903
м.н.с. отд. молекулярной медицины НИИ молекулярной и персонализированной медицины ФГБОУ ДПО РМАНПО
Russian Federation, MoscowE. A. Grishina
Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-5621-8266
д.б.н., в.н.с. отд. молекулярной медицины НИИ молекулярной и персонализированной медицины ФГБОУ ДПО РМАНПО
Russian Federation, MoscowG. N. Shuev
Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-5031-0088
аспирант каф. клинической фармакологии и терапии им. акад. Б.Е. Вотчала ФГБОУ ДПО РМАНПО
Russian Federation, MoscowE. Yu. Kitaeva
Irkutsk State Medical Academy of Postgraduate Education – branch of Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0001-9498-4503
ассистент каф. геронтологии, гериатрии и клинической фармакологии ИГМАПО – филиала ФГБОУ ДПО РМАНПО
Russian Federation, IrkutskV. V. Shprakh
Irkutsk State Medical Academy of Postgraduate Education – branch of Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0003-1650-1275
дир. ИГМАПО – филиала ФГБОУ ДПО РМАНПО
Russian Federation, IrkutskS. Sh. Suleymanov
Saiko Russian-Japanese Medical Center
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-9236-7525
д.м.н., проф., ген. дир. ООО «Саико»
Russian Federation, KhabarovskL. Z. Bolieva
North Ossetia State Medical Academy
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-1820-7726
д.м.н., проф., зав. каф. фармакологии с клинической фармакологией ФГБОУ ВО СОГМА
Russian Federation, VladikavkazM. S-H. Sozaeva
Republican Clinical Hospital
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-5616-8836
зав. КДЛ ГБУЗ РКБ
Russian Federation, NalchikS. M. Zhuchkova
Republican Clinical Oncology Center
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-2503-1271
к.м.н., клин. фармаколог АУ РКОД
Russian Federation, CheboksaryN. E. Gimaldinova
Ulianov Chuvash State University
Email: karin05doc@yandex.ru
ORCID iD: 0000-0001-8488-308X
к.м.н., ассистент каф. общей и клинической морфологии и судебной медицины ФГБОУ ВО «ЧГУ им. И.Н. Ульянова»
Russian Federation, CheboksaryE. E. Sidukova
Kozmodemyansk Interdistrict Hospital
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-5083-6223
зам. глав. врача ГБУ РМЭ «Козьмодемьянская МБ»
Russian Federation, KozmodemyanskI. S. Burashnikova
Kazan State Medical Academy – branch of Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-8511-5696
к.м.н., ассистент каф. клинической фармакологии и фармакотерапии КГМА – филиала ФГБОУ ДПО РМАНПО
Russian Federation, KazanA. A. Shikaleva
Kazan State Medical Academy – branch of Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0003-1798-0490
председатель Совета обучающихся и молодых ученых КГМА – филиала ФГБОУ ДПО РМАНПО
Russian Federation, KazanK. G. Zabudskaya
Blokhin National Medical Research Center of Oncology
Email: karin05doc@yandex.ru
ORCID iD: 0000-0003-1290-574X
ординатор по специальности «Генетика» ФГБУ «НМИЦ онкологии им. Н.Н. Блохина»
Russian Federation, MoscowD. A. Sychev
Russian Medical Academy of Continuous Professional Education
Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-4496-3680
чл.-кор. РАН, проф. РАН, д.м.н., проф., проректор по развитию и инновациям ФГБОУ ДПО РМАНПО
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