Analysis of Association of Asp299Gln (rs 4986790) and Thr399Ile (rs 4986791) Polymorphisms of the TLR4 Gene with Risk of Developing Lung Sarcoidosis (Using the Example of Residents of Karelia)

• Published in: Oecologia
• Main Authors: I. E. Malysheva, L. V. Topchieva, E. L. Tikhonovich, И. Е. Малышева, Л. В. Топчиева, Э. Л. Тихонович
• Other Authors: Финансовое обеспечение исследований осуществлялось из средств федерального бюджета на выполнение государственного задания Карельского научного центра Российской академии наук (тема: FMEN-2022-0009, № г.р. 122031100064-4).
• Format: Article in Journal/Newspaper
• Language: Russian
• Published: Publishing house NEW TERRA 2022
• Subjects: полиморфизм; Toll-like receptors (TLRs); TLR4gene; polymorphism; толл-подобные рецепторы (toll-likereceptors; TLRs); ген TLR4; Republic of Karelia
• Online Access: https://www.tibl-journal.com/jour/article/view/1672; https://doi.org/10.21292/2075-1230-2022-100-9-16-20

The objective: to analyze the association of the Asp299Gln (rs 4986790) and Thr399Ile(rs 4986791) polymorphisms of the TLR4 gene with the risk of pulmonary sarcoidosis in the Russian population of the Republic of Karelia.Subjects and Methods. 253 people were examined: 122 patients diagnosed with morphologically verified sarcoidosis with lung involvement (average age – 41.00 ± 12.56 years) (Sarcoidosis Group) and 131 healthy donors (Control Group) (average age – 44.00 ± 14.23 years). All subjects in both groups considered themselves Russians by ethnicity, as reported in the survey. The distribution of alleles and genotypes by the polymorphic markers Asp299Gln (rs 4986790) and Thr399Ile (rs 4986791) of the TLR4 gene was studied in the group of patients with pulmonary sarcoidosis and the group of healthy individuals. Genotyping was carried out by PCR-RFLP.Results. There were no statistically significant differences in the distribution of allele and genotype frequencies for the Asp299Gln (rs 4986790) and Thr399Ile (rs 4986791) polymorphic markers of the TLR4 gene between the group of patients with pulmonary sarcoidosis and the control group: (χ2 = 0, df = 1, p = 0.997 и χ2 = 1.0, df = 2, p = 0.606; χ2 = 0.785, df = 1, p = 0.376 и χ2 = 0, df = 2, p = 1.0).Conclusion. The polymorphic marker Asp299Gln (rs 4986790) and Thr399Ile (rs 4986791) of the TLR4 gene is not associated with the risk of pulmonary sarcoidosis in the Russian population of the Republic of Karelia. Цель исследования: изучить связи полиморфизма Asp299Gln (rs 4986790) и Thr399Ile (rs 4986791) гена TLR4 с риском развития саркоидоза легких у русского населения Республики Карелия.Материалы и методы. Обследовано 253 человека: 122 больных с диагнозом морфологически верифицированного саркоидоза с поражением легких (средний возраст 41,00 ± 12,56 года) (группа саркоидоз) и 131 здоровый донор (группа сравнения) (средний возраст 44,00 ± 14,23 года). Все обследованные обеих групп считали себя по национальности русскими, о чем сообщили в проведенном ...