diaendoСахарный диабетDiabetes mellitus2072-03512072-0378Endocrinology research centre10.14341/DM2003418-21diaendo-7819Research ArticleГенетикаGeneticsАссоциация полиморфизма rs7903146 гена TCF7L2 с низкими концентрациями аутоантител при латентном аутоиммунном диабете взрослых (LADA)Association of polymorphism rs7903146 gene TCF7L2 with low concentrations of autoantibodies in latent autoimmune diabetes of adults (LADA)https://orcid.org/0000-0002-0244-4073СилкоЮлия ВикторовнаSilkoIuliia V.

аспирант

MD

alekseevauv@bk.ruhttps://orcid.org/0000-0001-5656-2596НиконоваТатьяна ВасильевнаNikonovaTatiana V.

д.м.н.

tatiana_nikonova@mail.ruhttps://orcid.org/0000-0002-8366-2004ИвановаОльга НиколаевнаIvanovaOlga N.

к.б.н.

ion10@bk.ruhttps://orcid.org/0000-0003-4238-0390СтепановаСветлана МихайловнаStepanovaSvetlana M.

врач-эндокринолог

ion10@bk.ruhttps://orcid.org/0000-0002-5057-127XШестаковаМарина ВладимировнаShestakovaMarina V.

д.м.н., профессор

nephro@endocrincentr.ruhttps://orcid.org/0000-0002-8175-7886ДедовИван ИвановичDedovIvan I.

д.м.н., профессор

dedov@endocrincentr.ruФГБУ Эндокринологический научный центр Минздрава РоссииРоссияEndocrinology Research CentreRussian FederationФГБУ Эндокринологический научный центр Минздрава России; ГБОУ ВПО Первый Московский государственный медицинский университет имени И.М. СеченоваРоссияEndocrinology Research Centre; I.M.Sechenov First Moscow State Medical UniversityRussian Federation201604042016193199203Copyright © Силко Ю.В., Никонова Т.В., Иванова О.Н., Степанова С.М., Шестакова М.В., Дедов И.И., 20162016Силко Ю.В., Никонова Т.В., Иванова О.Н., Степанова С.М., Шестакова М.В., Дедов И.И.Silko I.V., Nikonova T.V., Ivanova O.N., Stepanova S.M., Shestakova M.V., 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/7819Цель

Цель. Определить в выборках больных латентным аутоиммунным диабетом взрослых (LADA) и здоровых индивидов частоты аллелей и генотипов полиморфного маркера rs7903146 гена TCF7L2. Провести сравнительный анализ распределения аллелей и генотипов, изучить ассоциацию с развитием болезни.

Материалы и методы

Материалы и методы. Обследовано 96 пациентов (46 женщин и 50 мужчин) с LADA-диабетом

и 201 человек из группы контроля. Проведено количественное определение аутоантител GADA, ICA, IA-2A и ZnT8 в сыворотке крови пациентов LADA. Всем испытуемым провели типирование rs7903146 гена TCF7L2.

Результаты

Результаты. При сравнении частот аллелей и генотипов rs7903146 гена TCF7L2 обнаружено увеличение частоты Т аллеля и генотипа Т+ у пациентов с LADA-диабетом с низкими концентрациями аутоантител по сравнению с группой пациентов с высокими концентрациями и с контролем. Установлена ассоциация аллеля Т и генотипа Т+ с LADA-диабетом с низкими концентрациями аутоантител (р=0,02; OR=1,85; CI (95%)=1,10–3,13 и р=0,04; OR=2,14; CI (95%)=1,01–4,53 для аллеля Т и генотипа Т+).

Заключение

Заключение. Результаты исследования позволяют предполагать, что пациенты с LADA с низкими концентрациями аутоантител имеют генетически обусловленное сходство с СД2.

Aim

Aim. To determine the frequencies of alleles and genotypes of polymorphic marker rs7903146 of the TCF7L2 gene in latent autoimmune diabetes in adults (LADA) and healthy individuals. The aims of the study were also to compare the distribution of alleles and genotypes and to explore the association with the development of LADA.

Materials and methods

Materials and methods. A total of 96 patients (46 females and 50 males) with LADA and 201 healthy individuals were examined. A quantitative determination of autoantibodies GADA, ICA, IA-2A and ZnT8 in the serum of LADA patients was performed. All patients underwent genotyping of rs7903146 of the TCF7L2 genes.

Results

Results. There was an increased frequency of the T allele and genotype T+ of marker rs7903146 of the TCF7L2 gene in patients with LADA with low concentrations of autoantibodies compared to a group of patients with high concentrations and with controls. We observed significant associations of the T allele and genotype T+ with LADA in patients with low concentrations of autoantibodies [p = 0.02; odds ratio (OR) = 1.85; 95% confidence interval (CI) = 1.10–3.13 and p = 0.04; OR = 2.14; 95% CI = 1.01–4.53 for the T allele and genotype T+, respectively).

Conclusion

Conclusion. The results of the study suggest that LADA patients with low concentrations of autoantibodies have a genetically pre-determined similarity with patients with type 2 diabetes.

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