vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/VJ19.586vavilov-2398Research ArticleМОЛЕКУЛЯРНЫЕ МАРКЕРЫ В ГЕНЕТИКЕ И СЕЛЕКЦИИBIOINFORMATICS AND SYSTEM BIOLOGYКандидатные SNP-маркеры ревматоидного полиартрита, которые могут достоверно изменять сродство ТАТА-связывающего белка к промоторам генов человекаСandidate SNP-markers of rheumatoid arthritis that can significantly alter the affinity of the TATA-binding protein for human gene promotersЧадаеваИ. В.ChadaevaI. V.

Новосибирск

Novosibirsk

РассказовД. А.RasskazovD. A.

Новосибирск

Novosibirsk

ШарыповаЕ. Б.SharypovaE. B.

Новосибирск

Novosibirsk

ДрачковаИ. А.DrachkovaI. A.

Новосибирск

Novosibirsk

ОщепковаЕ. А.OshchepkovaE. A.

Новосибирск

Novosibirsk

СавинковаЛ. К.SavinkovaL. K.

Новосибирск

Novosibirsk

ПономаренкоП. М.PonomarenkoP. M.

Ла-Верн, Калифорния

La Verne, California

https://orcid.org/0000-0003-1663-318XПономаренкоМ. П.PonomarenkoM. P.

Новосибирск

Novosibirsk

pon@bionet.nsc.ruКолчановН. А.KolchanovN. A.

Новосибирск

Novosibirsk

КозловВ. А.KozlovV. A.

Новосибирск

Novosibirsk

Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук; Новосибирский национальный исследовательский государственный университетРоссияInstitute of Cytology and Genetics, SB RAS; Novosibirsk State UniversityRussian FederationФедеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наукРоссияInstitute of Cytology and Genetics, SB RASRussian FederationУниверситет Ла-ВернаСоединённые Штаты АмерикиUniversity of La VerneUnited StatesНаучно-исследовательский институт фундаментальной и клинической иммунологииРоссияResearch Institute of Fundamental and Clinical ImmunologyRussian Federation20190901202023810471058Copyright © Чадаева И.В., Рассказов Д.А., Шарыпова Е.Б., Драчкова И.А., Ощепкова Е.А., Савинкова Л.К., Пономаренко П.М., Пономаренко М.П., Колчанов Н.А., Козлов В.А., 20202020Чадаева И.В., Рассказов Д.А., Шарыпова Е.Б., Драчкова И.А., Ощепкова Е.А., Савинкова Л.К., Пономаренко П.М., Пономаренко М.П., Колчанов Н.А., Козлов В.А.Chadaeva I.V., Rasskazov D.A., Sharypova E.B., Drachkova I.A., Oshchepkova E.A., Savinkova L.K., Ponomarenko P.M., Ponomarenko M.P., Kolchanov N.A., Kozlov V.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/2398

Ревматоидный полиартрит (РА) – аутоиммунное заболевание с наличием аутоантител (например, антитела к антигенам цитруллированных белков), и провоспалительных цитокинов, таких как TNF-α и IL-6, которые принимают участие в индукции хронического синовита, эрозии костной ткани с последующей деформацией. Иммунопатогенез базируется на механизмах полома иммунной толерантности к собственным антигенам, что характеризуется повышением активности Т-клеток-эффекторов, обуславливающих симптоматику РА. В то же время на фоне такой повышенной активности эффекторных лимфоцитов регистрируется снижение активности ряда регуляторных клеток, включая регуляторные Т-клетки (Трег) и клетки-супрессоры миелоидного происхождения. Имеются основания полагать, что именно изменение активности клеток-супрессоров является ведущим звеном в патогенезе развития РА. Поэтому говорят лишь о периодах ослабления (ремиссии) РА. Вследствие более мощной женской иммунной системы, по сравнению с мужской, риск развития РА у женщин втрое выше, он снижается при лактации и растет при беременности, а также после менопаузы пропорционально уровню половых гормонов. Считают, что риск развития РА на 50 % зависит от условий и образа жизни, тогда как оставшиеся 50 % – от генетической предрасположенности. Поэтому РА отвечает главной идее постгеномной предиктивно-превентивной персонализированной медицины: дать шанс тем, кто хотел бы снизить риск заболеваний, приведя образ своей жизни в соответствие с данными по своему расшифрованному геному. Это очень важно, поскольку врачи относят РА к наиболее частым причинам инвалидизации. С использованием ранее созданного нами Web-сервиса SNP_TATA_Z-tester (http://beehive.bionet.nsc.ru/cgi-bin/mgs/tatascan_fox/start.pl) исследовано 227 вариантов однонуклеотидного полиморфизма (SNP) промоторов генов человека. В итоге было предсказано 43 кандидатных SNP-маркера РА, которые способны изменять сродство ТАТА-связывающего белка (ТВР) к промоторам этих генов.

Rheumatoid polyarthritis (RA) is an autoimmune disease with autoantibodies, including antibodies to citrullant antigens and proinflammatory cytokines, such as TNF-α and IL-6, which are involved in the induction of chronic synovitis, bone erosion, followed by deformity. Immunopathogenesis is based on the mechanisms of the breakdown of immune tolerance to its own antigens, which is characterized by an increase in the activity of T-effector cells, causing RA symptomatology. At the same time, against the background of such increased activity of effector lymphocytes, a decrease in the activity of a number of regulatory cells, including regulatory T-cells (Treg) and myeloid suppressor cells, is recorded. There is reason to say that it is the change in the activity of suppressor cells that is the leading element in RA pathogenesis. That is why only periods of weakening (remission) of RA are spoken of. According to the more powerful female immune system compared to the male one, the risk of developing RA in women is thrice as high, this risk decreases during breastfeeding and grows during pregnancy as well as after menopause in proportion to the level of sex hormones. It is believed that 50 % of the risk of developing RA depends on the conditions and lifestyle, while the remaining 50 % is dependent on genetic predisposition. That is why, RA fits the main idea of postgenomic predictive-preventive personalized medicine that is to give a chance to those who would like to reduce his/her risk of diseases by bringing his/her conditions and lifestyle in line with the data on his/her genome sequenced. This is very important, since doctors consider RA as one of the most frequent causes of disability. Using the Web service SNP_TATA_Z-tester (http://beehive.bionet.nsc.ru/cgi-bin/mgs/tatascan_fox/start.pl), 227 variants of single nucleotide polymorphism (SNP) of the human gene promoters were studied. As a result, 43 candidate SNP markers for RA that can alter the affinity of the TATA-binding protein (TBP) for the promoters of these genes were predicted.

ТАТА-связывающий белок (ТВР)сайт ТВР-связывания (ТАТА-бокс)промоторсродство ТВР/промоторгеноднонуклеотидный полиморфизм (SNP)экспрессия генадостоверное изменениеSNP-маркерревматоидный полиартрит (РА)TATA binding protein (TBP)TBP-binding site (TATA box)promoterTBP-promoter affinitygenesingle nucleotide polymorphism (SNP)gene expressionsignificant changeSNP-markerrheumatoid polyarthritis (RA)The text of the manuscript was written by MPP, who acknowledges the support from the Russian Ministry of Education and Science, Program of the Improvement of the Worldwide Competitive Ability of Russian Universities among Research and Educational Centers (project 5–100). The modification of the Web service by PMP, DAR, IVCh, and EAO and data analysis by EBSh, IAD, and LKS were supported by budgeted projects 0324-2019-0040 and 0324-2019-0042, respectively. 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The authors declare that there are no conflicts of interest present.