Hypothesis about the protective role of ccr5delta32 mutations in juvenile idiopathic arthritis: fiction or reality?


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Abstract

It is suspected that the prevalence in different ethnic groups of HLA-genotype and of mutation CCR5delta32 - factors which alter adhesion of protein CCR5 - are the causes of different prevalence of juvenile idiopathic arthritis in different ethnic populations. Prerequisites to the fact that the mutation CCR5delta32 may have importance in determining susceptibility to the disease were the observations showing that CCR5 deletion polymorphism reveals a population and geographic diversity in addition to ethnic specificity. But reports on the role of gene deletion in the CCR5 chemokine receptor susceptibility to JIA rather contradictory. 234 DNA samples of patients with systemic JIA (soJIA) were ana-lyzed. The diagnosis was made according to the ILAR criteria. DNA was isolated using QIAamp Mini Kit (QIAGEN) according to the protocol provided. Our results didn’t reveal any differences in prevalence of mutation in patients with soJIA, in patients with soJIA + macrophage activation syndrome and in total population. Our results do not support the idea of protective role of the muta-tion CCR5delta32 against soJIA, which conclusion can be explained also by probable association of soJIA with HLA-genotype or other factors of ethnicity. At the same time, it can be considered as an additional evidence of expediency of soJIA being an original disease different from the rest of JIA group of diseases.

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About the authors

Elena Vladimirovna Fedorova

Saint Petersburg State Pediatric Medical University

Email: detymedic@mail.ru
MD, Research Fellow, Chair of Hospital Pediatrics

Andrey Sergeyevich Egorov

Saint Petersburg State Pediatric Medical University

Email: egorov.doc@gmail.com
MD, Research Fellow, Chair of Hospital Pediatrics

Tatyana Ammosova

Howard University

Email: tatiana.ammosova@howard.edu
PhD, Assistant Research Professor

Sergey Lvovich Avrusin

Saint Petersburg State Pediatric Medical University

Email: avrusin4@gmail.com
MD, PhD, Associate Professor, Chair of Hospital Pediatrics

Andrey Vyacheslavovich Santimov

Saint Petersburg State Pediatric Medical University

Email: a.santimoff@gmail.com
MD, Research Fellow, Chair of Hospital Pediatrics

Mikhail Mikhaylovich Kostik

Saint Petersburg State Pediatric Medical University

Email: mikhail.kostik@gmail.com
MD, PhD, Associate Professor, Chair of Hospital Pediatrics

Margarita Fedorovna Dubko

Saint Petersburg State Pediatric Medical University

Email: andrq@rambler.ru
MD, PhD, Associate Professor, Chair of Hospital Pediatrics

Olga Valeryevna Kalashnikova

Saint Petersburg State Pediatric Medical University

Email: koira7@yandex.ru
MD, PhD, Associate Professor, Chair of Hospital Pediatrics

Vera Vasilyevna Masalova

Saint Petersburg State Pediatric Medical University

Email: masalova.vera@gmail.com
MD, Research Fellow, Chair of Hospital Pediatrics

Tatyana Serafimovna Likhacheva

Saint Petersburg State Pediatric Medical University

Email: tatianasl@list.ru
MD, Research Fellow, Chair of Hospital Pediatrics

Ludmila Stepanovna Snegireva

Saint Petersburg State Pediatric Medical University

Email: l.s.snegireva@mail.ru
MD, Department of Pediatrics N 3

Alexey Alekseevich Grom

Cincinnati Children’s Hospital Medical Center

Email: Alexei.grom@cchmc.org
MD, PhD, Dr Med Sci, Professor, Department of Pediatrics

Sergei Nekhai

Howard University

Email: snekhai@howard.edu
Ph.D., Director, RCMI Proteomics Core Facility, Associate Professor, Center for Sickle Cell Disease

Vyacheslav Grigoryevich Chasnyk

Saint Petersburg State Pediatric Medical University

Email: chasnyk@gmail.com
MD, PhD, Dr Med Sci, Professor, Head of the Department of Hospital Pediatrics

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Copyright (c) 2014 Fedorova E.V., Egorov A.S., Ammosova T., Avrusin S.L., Santimov A.V., Kostik M.M., Dubko M.F., Kalashnikova O.V., Masalova V.V., Likhacheva T.S., Snegireva L.S., Grom A.A., Nekhai S., Chasnyk V.G.

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