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: Tuberculosis and Lung Diseases
• Main Authors: I. E. Malysheva, L. V. Topchieva, E. L. Tikhonovich
• Format: Article in Journal/Newspaper
• Language: Russian
• Published: New Terra Publishing House 2022
• Subjects: саркоидоз легких; толл-подобные рецепторы (toll-likereceptors; tlrs); ген tlr4; полиморфизм; Diseases of the respiratory system; RC705-779; Republic of Karelia
• Online Access: https://doi.org/10.21292/2075-1230-2022-100-9-16-20; https://doaj.org/article/fee7e12e81ef46ec9f8c0a116edced6a

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.