mrjСовременная ревматологияModern Rheumatology Journal1996-70122310-158XIMA-PRESS, LLC10.14412/1996-7012-2022-1-68-72mrj-1254Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL INVESTIGATIONSАссоциация полиморфизма rs7574865 G/T гена STAT4 с ювенильным началом системной красной волчанкиAssociation of rs7574865 G/T polymorphism of STAT4 gene with juvenile onset of systemic lupus erythematosushttps://orcid.org/0000-0002-9922-5124КрыловМ. Ю.KrylovM. Yu.

Михаил Юрьевич Крылов

115522, Москва, Каширское шоссе, 34А

Mikhail Yurievich Krylov

34A, Kashirskoe Shosse, Moscow 115522

mekry@yandex.ruhttps://orcid.org/0000-0002-0513-6826КаледаМ. И.KaledaM. I.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115522

https://orcid.org/0000-0002-4906-7148ГусеваИ. А.GusevaI. A.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115522

https://orcid.org/0000-0003-4316-1077КоноваловаН. В.KonovalovaN. V.

127550, Москва, ул. Тимирязевская 42

42, Timiryazevskaya street, Moscow 127550

https://orcid.org/0000-0001-7004-981XВарламовД. А.VarlamovD. A.

127550, Москва, ул. Тимирязевская 42

42, Timiryazevskaya street, Moscow 127550

ФГБНУ «Научно-исследовательский институт ревматологии им. В.А. Насоновой»РоссияV.A. Nasonova Research Institute of RheumatologyRussian FederationФГБНУ «Всероссийский научно-исследовательский институт сельскохозяйственной биотехнологии»РоссияAll-Russian Research Institute of Agricultural BiotechnologyRussian Federation2022190220221616872Copyright © Крылов М.Ю., Каледа М.И., Гусева И.А., Коновалова Н.В., Варламов Д.А., 20222022Крылов М.Ю., Каледа М.И., Гусева И.А., Коновалова Н.В., Варламов Д.А.Krylov M.Y., Kaleda M.I., Guseva I.A., Konovalova N.V., Varlamov D.A.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/1254

Системная красная волчанка (СКВ) с ювенильным началом (юСКВ) – комплексное аутоиммунное заболевание с вовлечением многих органов и систем. Однонуклеотидный полиморфизм rs7574865 гена STAT4 (сигнального переключателя и активатора транскрипции 4) связан с риском развития нескольких аутоиммунных заболеваний, включая СКВ у взрослых.Цель исследования – проверка гипотезы о связи полиморфизма rs7574865 гена STAT4 с предрасположенностью к юСКВ. Пациенты и методы. В настоящем исследовании случай-контроль полиморфизм rs7574865 был изучен у 50 детей с юСКВ и 103 здоровых волонтеров контрольной группы с помощью полимеразной цепной реакции в реальном времени.Результаты и обсуждение. Распределение частот генотипов среди пациентов имело статистически значимые различия по сравнению с контролем (р=0,005). Частоты генотипов GG, GT, TT, GT + TT у пациентов c юСКВ и в контрольной группе составили 36,0 и 63,1% (р=0,003); 54,0 и 33,0% (р=0,021); 10,0 и 3,9% (р=0,153); 64,0 и 36,9% соответственно (p=0,003). Частота мутантного аллеля Т изученного полиморфизма была выше у пациентов с юСКВ по сравнению с контролем (соответственно 37 и 20,4%; р=0,002). Исследована ассоциация аллеля Т с клиническими, лабораторными и иммунологическими фенотипами юСКВ.Заключение. Полученные данные указывают на значение полиморфизма rs7574865 гена STAT4 как важного фактора риска предрасположенности к юСКВ. Анализ распределения частот аллелей между альтернативными группами пациентов с разными фенотипическими проявлениями юСКВ (их наличием или отсутствием) показал связь данного полиморфизма с артритом.

Systemic lupus erythematosus (SLE) with juvenile onset (jSLE) is a complex autoimmune disease involving many organs and systems. The single nucleotide polymorphism rs7574865 of the STAT4 (signal switch and transcription activator 4) gene is associated with the risk of developing several autoimmune diseases, including SLE in adults.Objective: to verify the hypothesis of the association of the rs7574865 polymorphism of the STAT4 gene with a predisposition to jSLE. Patients and methods. In the present case-control study, the rs7574865 polymorphism was studied in 50 children with jSLE and 103 healthy control volunteers using real-time polymerase chain reaction.Results and discussion. The distribution of genotype frequencies among patients had statistically significant differences compared to controls (p=0.005). The frequencies of GG, GT, TT, GT + TT genotypes in patients with jSLE and in the control group were 36.0 and 63.1% (p=0.003); 54.0 and 33.0% (p=0.021); 10.0 and 3.9% (p=0.153); 64.0 and 36.9% respectively (p=0.003). The frequency of the mutant T allele of the studied polymorphism was higher in patients with jSLE compared with controls (37 and 20.4%, respectively; p=0.002). The association of the T allele with clinical, laboratory, and immunological phenotypes of jSLE was studied.Conclusion. The obtained data indicate the significance of the rs7574865 polymorphism of the STAT4 gene as an important risk factor for susceptibility to jSLE. An analysis of the distribution of allele frequencies between alternative groups of patients with different phenotypic manifestations of jSLE (their presence or absence) showed an association of this polymorphism with arthritis.

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