mrjСовременная ревматологияModern Rheumatology Journal1996-70122310-158XIMA-PRESS, LLC10.14412/1996-7012-2014-3-28-33mrj-557Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL INVESTIGATIONSРоль генетического полиморфизма гена рецептора витамина D (VDR ) в п атогенезе ювенильного идиопатического артрита : теоретические и практические аспектыRole of vitamin D receptor (VDR) gene polymorphism in the pathogenesis of juvenile idiopathic arthritis: Theoretical and practical aspectsКостикМ. М.KostikM. M.kost-mikhail@yandex.ruЩеплягинаЛ. А.SheplyaginaL. A.ЛарионоваВ. И.LarionovaV. I.ГБОУ ВПО «Санкт-Петербургский государственный педиатрический медицинский университет», Санкт-Петербург, Россия 1194100, Санкт-Петербург, Литовская ул., 2РоссияSaint Petersburg State Pediatric Medical University, Saint Petersburg, Russia 2, Litovskaya St., Saint Petersburg 194100Russian FederationГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского», Москва, Россия 129110, Москва, ул. Щепкина, 61/2;РоссияM.F. Vladimirsky Moscow Regional Research Clinical Institute, Moscow, Russia 61/2, Shchepkin St., Moscow 129110Russian FederationФГБНУ «Научно-исследовательский детский ортопедический институт имени Г.И. Турнера», Санкт-Петербург, Россия 196603, Санкт-Петербург, Пушкин, Парковая ул., 64–68РоссияG.I. Turner Pediatric Orthopedics Research Institute, Saint Petersburg, Russia 64-68 Parkovaya St., Pushkin, Saint Petersburg 196603Russian Federation201422092014832833Copyright © Костик М.М., Щеплягина Л.А., Ларионова В.И., 20142014Костик М.М., Щеплягина Л.А., Ларионова В.И.Kostik M.M., Sheplyagina L.A., Larionova V.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://mrj.ima-press.net/mrj/article/view/557

Ювенильный идиопатический артрит (ЮИА) – хроническое воспалительное заболевание суставов, связанное с нарушением работы иммунной системы. Особенности течения ЮИА могут быть генетически детерминированы.

Цель исследования – дать оценку активности ЮИА у детей с ApaI и BsmI полиморфными генотипами гена рецептора витамина D (VDR).

Материал и методы

Материал и методы. В исследование включен 71 ребенок, страдающий ЮИА. На момент включения в исследование все пациенты находились в активном состоянии болезни. Оценка активности ЮИА осуществлялось при помощи наиболее часто используемых клинических и лабораторных показателей, в том числе суставного индекса Ричи (CИР), индексов JADAS10, JADAS27, JADAS71, CDAI, DAS и DAS28. Молекулярно-генетические исследования – определение ApaI и BsmI полиморфизмов гена VDR при помощи полимеразной цепной реакции с последующим рестрикционным анализом.

Результаты исследования

Результаты исследования. Мальчики – носители генотипа bb BsmI полиморфного маркера гена VDR – имели достоверно более высокие показатели активности ЮИА, измеренного при помощи СИР (p=0,03), индексов DAS (p<0,05), JADAS10 (p=0,04), JADAS27 (p=0,04) и JADAS71 (p=0,04) по сравнению с носителями аллеля B (BB+Bb генотипы).

Заключение

Заключение. Носительство генотипа bb BsmI полиморфного маркера гена VDR связано с высокой активностью ЮИА, что может рассматриваться как маркер неблагоприятного прогноза у мальчиков, больных ЮИА.

Juvenile idiopathic arthritis (JIA) is a chronic inflammatory joint disease associated with impaired immune system performance. The specific features of JIA may be genetically determined.

Objective

Objective: to assess JIA activity in children with vitamin D receptor (VDR) gene ApaI and BsmI polymorphism genotypes.

Subjects and methods

Subjects and methods. The investigation enrolled 71 patients with JIA. When included in the investigation, all the patients were in an active state of disease. JIA activity was assessed using the most commonly used clinical and laboratory indicators, including the Ritchie articular index (RAI), JADAS10, JADAS27, JADAS71, CDAI, DAS, and DAS28. Molecular genetic studies determined VDR gene ApaI and BsmI polymorphisms by polymerase chain reaction, followed by restriction analysis.

Results

Results. The boys who were carriers of a bb BsmI polymorphic marker in the VDR gene had a significantly higher activity of JIA measured by RAI (p=0.03), DAS (p<0.05), JADAS10 (p=0.04), JADAS27 (p=0.04), and JADAS71 (p=0.04) than those who were carriers of B allele (BB + Bb genotypes).

Conclusion

Conclusion. The carriage of the VDR gene bb BsmI genotype of the polymorphic marker is associated with high JIA activity, which may be regarded as a marker of poor prognosis in boys with JIA.

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The authors declare that there are no conflicts of interest present.