diaendoСахарный диабетDiabetes mellitus2072-03512072-0378Endocrinology research centre10.14341/2072-0351-3750diaendo-3750Research ArticleСтатьиArticlesАссоциация полиморфизма гена PTPN22 с сахарным диабетом 1 типа в различных популяциях РФPTPN22 polymorphisms associated with type 1 diabetes mellitus in ethnic populations of Russian FederationИвановаОльга НиколаевнаIvanovaO N

к.б.н., в.н.с. лаборатории генетики и клинической иммунологии

k.b.n., v.n.s. laboratorii genetiki i klinicheskoy immunologii

genetics2@yandex.ruПрокофьевСергей АлександровичProkof'evSergey Alexandrovich

к.б.н., в.н.с. лаборатории генетики и клинической иммунологии

k.b.n., v.n.s. laboratorii genetiki i klinicheskoy immunologii

dia@endojournals.ruСмирноваНаталья БорисовнаSmirnovaNatalia Borisovna

к.б.н., в.н.с. лаборатории генетики и клинической иммунологии

k.b.n., v.n.s. laboratorii genetiki i klinicheskoy immunologii

dia@endojournals.ruТишинаЮлия ВладимировнаTishinaYulia Vladimirovna

н.с. лаборатории генетики и клинической иммунологии

n.s. laboratorii genetiki i klinicheskoy immunologii

dia@endojournals.ruБардымоваТатьяна ПрокопьевнаBardymovaTatiana Prokop'evna

д.м.н, проф., зав. кафедрой эндокринологии

d.m.n, prof., zav. kafedroy endokrinologii

dia@endojournals.ruДаниловаГалина ИвановаDanilovaG I

к.м.н., главный детский эндокринолог МЗ Республики Саха-Якутии

k.m.n., glavnyy detskiy endokrinolog MZ Respubliki Sakha-Yakutii

dia@endojournals.ruКоваленкоТатьяна ВикторовнаKovalenkoT V

д.м.н., зав. кафедрой педиатрии

d.m.n., zav. kafedroy pediatrii

dia@endojournals.ruТитовичЕлена ВитальевнаTitovichElena Vital'evna

к.м.н., в.н.с. Института детской эндокринологии

k.m.n., v.n.s. Instituta detskoy endokrinologii

dia@endojournals.ruКураеваТамара ЛеонидовнаKuraevaTamara Leonidovna

проф., д.м.н., зав. отделением диабета Института детской эндокринологии

prof., d.m.n., zav. otdeleniem diabeta Instituta detskoy endokrinologii

dia@endojournals.ruПетерковаВалентина АлександровнаPeterkovaValentina Alexandrovna

член-корр. РАМН, проф., директор Института детской эндокринологии

chlen-korr. RAMN, prof., direktor Instituta detskoy endokrinologii

dia@endojournals.ruДедовИван ИвановичDedovIvan Ivanovich

академик РАН и РАМН, директор

akademik RAN i RAMN, direktor

dedov@endocrincentr.ruФГБУ Эндокринологический научный центр, МоскваEndocrinology Research Centre, MoscowГОУ ДПО «Иркутский государственный институт усовершенствования врачей», Иркутск2 Irkutsk State Medical Academy of Postgraduate Studies, Irkutsk3 ГБУ Республиканская больница №1 – Национальный центр медицины, ЯкутскYakutsk Republican Hospital №1, YakutskГБОУ ВПО Ижевская государственная медицинская академия, ИжевскIzhevsk State Medical Academy, Izhevsk201315062013162№2 (2013)410Copyright © Иванова О.Н., Прокофьев С.А., Смирнова Н.Б., Тишина Ю.В., Бардымова Т.П., Данилова Г.И., Коваленко Т.В., Титович Е.В., Кураева Т.Л., Петеркова В.А., Дедов И.И., 20132013Иванова О.Н., Прокофьев С.А., Смирнова Н.Б., Тишина Ю.В., Бардымова Т.П., Данилова Г.И., Коваленко Т.В., Титович Е.В., Кураева Т.Л., Петеркова В.А., Дедов И.И.Ivanova O.N., Prokof'ev S.A., Smirnova N.B., Tishina Y.V., Bardymova T.P., Danilova G.I., Kovalenko T.V., Titovich E.V., Kuraeva T.L., Peterkova V.A., Dedov I.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.dia-endojournals.ru/jour/article/view/3750

Цель. Исследование ассоциации полиморфизмов гена PTPN22 (rs2476601 и rs2488457) с сахарным диабетом 1 типа (СД1)в нескольких популяциях РФ, межпопуляционное сравнение частот этих полиморфизмов.Материалы и методы. Методом случай-контроль изучалась ассоциация указанных полиморфизмов в пяти популяциях РФ: башкирской, якутской, бурятской, удмуртской, русской. Исследованы образцы ДНК 491 пациента с СД1 и 408 лиц контрольных групп. Типирование полиморфизмов проводили с помощью RFLP-PCR или RealTime-PCR. Степень ассоциации признака с заболеванием определялась величиной показателя отношения шансов (OR). Расчеты выполняли при помощи компьютерных программ STATISTICA version 6.www.statsoft.com и Microsoft Office Excel-2003.Результаты. В удмуртской, русской и башкирской популяциях с СД1 ассоциирован PTPN22 1858Т+ генотип; в бурятской популяции с СД1 ассоциирован PTPN22 -1123C+ генотип; в якутской популяции ассоциации полиморфизмов гена PTPN22 с СД1 не выявлено. Межэтническое сравнение частот полиморфизмов выявило статистически значимые различия. Бу- рятская популяция отличается от всех других исследованных популяций по распределению частот аллелей полиморфизма G-1123C (rs2488457). Только в бурятской популяции частота аллеля G (71,3%) значительно больше частоты аллеля C. Рус- ская популяция Москвы и области отличается от всех других исследованных популяций по распределению частот аллелей полиморфизма C1858Т (rs2476601). В московской популяции частота аллеля Т достигает 13%.Заключение. Популяции, проживающие в азиатской части РФ и характеризующиеся низким уровнем заболеваемости СД1 (якутская и бурятская), отличаются наибольшей частотой аллеля G полиморфизма G-1123C (rs2488457). Русская попу- ляция Москвы и области, характеризующаяся высоким уровнем заболеваемости СД1, отличается наибольшей частотой аллеля T полиморфизма C1858Т (rs2476601).

Aim. To evaluate the association of rs2476601 and rs2488457 polymorphisms with type 1 diabetes mellitus (T1DM) in several ethnic populations of Russian Federation and to estimate the cross-populational differences of these polymorphisms.Materials and Methods. A case-control design was applied to study the aforementioned polymorphisms in five ethnic populations of Russian Federation: Bashkir, Yakut, Buryat, Udmurt, Russian. We analyzed DNA samples from 491 patients with T1DM and 408 control subjects. Polymorphisms were identified with RFLP-PCR and RT-PCR. Strength of association was evaluated as odds ratio (OR). All calculations were performed with StatSoft STATISTICA (version 6) and Microsoft Excel 2003 software applications.Results. PTPN22 1858Т+ genotypes were associated with T1DM in Udmurt, Russian and Bashkir populations and PTPN22 1123C+ genotype in Buryat population. We did not find any associations of PTPN22 gene polymorphisms with T1DM in Yakut population. Cross-ethnic comparison of polymorphism frequencies showed statistically significant differences. Allele frequency distribution in Buryat population significantly differs from that of other studied ethnic groups with G-1123C (rs2488457; 71.3%) being a significantly more common finding than C type allele. Russian population of Moscow and Moscow Region is also characterized by higher prevalence of Ttype allele (13%) in C1858Т (rs2476601) polymorphism.Conclusion. Ethnic populations of Asian regions of Russian Federation, characterized by lower rates of T1DM (Yakut and Buryat) demonstrated highest prevalence of G-allele in G-1123C (rs2488457) polymorphism. On the contrary, analyses from Russian population of Moscow and Moscow Region, known to have higher rates of T1DM, suggest higher prevalence of T-allele in C1858Т (rs2476601) polymorphism.

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