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

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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.

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, Moscow

D. 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, Moscow

K. 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, Moscow

Sh. 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, Moscow

A. 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, Moscow

Zh. 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, Moscow

E. 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, Moscow

G. 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, Moscow

E. 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, Irkutsk

V. 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, Irkutsk

S. 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, Khabarovsk

L. 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, Vladikavkaz

M. S-H. Sozaeva

Republican Clinical Hospital

Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-5616-8836

зав. КДЛ ГБУЗ РКБ

Russian Federation, Nalchik

S. 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, Cheboksary

N. 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, Cheboksary

E. E. Sidukova

Kozmodemyansk Interdistrict Hospital

Email: karin05doc@yandex.ru
ORCID iD: 0000-0002-5083-6223

зам. глав. врача ГБУ РМЭ «Козьмодемьянская МБ»

Russian Federation, Kozmodemyansk

I. 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, Kazan

A. 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, Kazan

K. 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, Moscow

D. 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

Russian Federation, Moscow

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