pulmoПульмонологияPULMONOLOGIYA0869-01892541-9617Scientific and Practical Journal “PULMONOLOGIYA” LLC10.18093/0869-0189-2014-0-2-33-39pulmo-236Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL STUDIESРОЛЬ ГЕНА-МОДИФИКАТОРА TCF7L2 В ВОЗНИКНОВЕНИИ ДИАБЕТА У ВЗРОСЛЫХ БОЛЬНЫХ МУКОВИСЦИДОЗОМA ROLE OF MODIFIER GENE TCF7L2 FOR DEVELOPMENT OF DIABETES IN ADULT PATIENTS WITH CYSTIC FIBROSISСамойленкоВ. А.SamoylenkoV. A.

научный сотрудник лаборатории муковисцидоза; тел.: (495) 465-74-15

samoilenkov@mail.ruПетроваН. В.PetrovaN. V.

д. м. н., ведущий научный сотрудник лаборатории эпидемиологической генетики; тел.: (499) 320-60-90

npetrova63@mail.ruБабаджановаГ. Ю.BabadzhanovaG. Yu.

д. м. н., зав. лабораторией генетики и мультифакториальных заболеваний; тел.: (495) 465-52-64

babadjanova@rambler.ruНагорныйА. Б.NagornyyA. B.

к. м. н., научный сотрудник лаборатории генетики и мультифакториальных заболеваний; тел.: (495) 465-52-64

alnagor@mail.ruКрасовскийС. А.KrasovskiyS. A.

к. м. н., научный сотрудник лаборатории муковисцидоза ФГБУ "НИИ пульмонологии" ФМБА России; тел.: (495) 465-74-15

sa_krasovsky@mail.ruЧучалинА. Г.ChuchalinA. G.

д. м. н., профессор, директор ФГУ "НИИ пульмонологии" ФМБА России; тел. / факс: (495) 465-52-64

chuchalin@inbox.ruФГБУ "НИИ пульмонологии" ФМБА России: 105077, Москва, ул. 11-я Парковая, 32, корп. 4Russian FederationГУ Медико-генетический научный центр РАМН: 115478, Москва, ул. Москворечье, 1Russian Federation201428042014023339Copyright © Самойленко В.А., Петрова Н.В., Бабаджанова Г.Ю., Нагорный А.Б., Красовский С.А., Чучалин А.Г., 20142014Самойленко В.А., Петрова Н.В., Бабаджанова Г.Ю., Нагорный А.Б., Красовский С.А., Чучалин А.Г.Samoylenko V.A., Petrova N.V., Babadzhanova G.Y., Nagornyy A.B., Krasovskiy S.A., Chuchalin A.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.pulmonology.ru/pulm/article/view/236

Изучена частота встречаемости аллелей и генотипов 3 полиморфизмов (rs12255372, rs7903146, rs11196205) в гене transcription factor 7-like 2 (TCF7L2) у взрослых больных муковисцидозом (МВ) с нарушениями углеводного обмена (НУО), больных МВ без НУО, пациентов с сахарным диабетом 2-го типа (СД 2) и в группе контроля. Показано, что в российской популяции у носителей полиморфизма rs12255372 повышен риск развития СД 2. При исследовании полиморфизма rs7903146 гена TCF7L2 выявлено, что частота аллеля С преобладала над частотой аллеля Т во всех 4 группах. Не выявлено значимых различий в распределении частот аллелей и генотипов данного полиморфного маркера в исследуемых группах. Продемонстрировано, что наличие аллеля C и генотипов C/C + C/G обусловливает протективный характер и снижение риска развития НУО у больных МВ. Напротив, при наличии аллеля G и гомозиготного генотипа G/G риск развития НУО повышается в 2,0–2,5 раза.

Introduction. Patients with cystic fibrosis (CF) are in a high risk of a particular type of diabetes mellitus. The aim of this study was to investigate predictive factors for development of CF-related diabetes mellitus.Methods. Allele and genotype frequencies of 3 gene transcription factor 7-like 2 (TCF7L2) polymorphisms (rs12255372, rs7903146, rs11196205) were investigated in adult patients with СF with or without carbohydrate metabolism disorders, in patients with diabetes mellitus and in controls.Results. Russian population of rs12255372 polymorphism carriers is in a higher risk of diabetes development. Investigations of rs7903146 polimorphism of TCF7L2 showed that C allele frequency was higher than T allele frequency in all the patients' groups.Conclusion. C allele and C/C + C/G genotypes seemed to play a protective role and were related to lower risk of carbohydrate metabolism disorders in CF patients. On the contrary, G allele and G/G homozygous genotype were related to 2.0 – 2.5-fold increase in the risk of carbohydrate metabolism disorders.

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