Association of FOXP3 gene -3279 C>A polymorphism with the risk of pulmonary sarcoidosis

• Published in: Terapevticheskii arkhiv
• Main Authors: I E Malysheva, L V Topchieva, E L Tikhonovich, I V Kurbatova, O V Balan
• Format: Article in Journal/Newspaper
• Language: Russian
• Published: "Consilium Medicum" Publishing house 2017
• Subjects: pulmonary sarcoidosis; foxp3 gene; polymorphism; expression; Medicine; R; Republic of Karelia
• Online Access: https://doi.org/10.17116/terarkh2017891264-67; https://doaj.org/article/b12f65581e334ccb8ca3aaab141cdf87

Aim. To investigate the association of the polymorphic marker -3279 C>A of the FOXP3 gene with the risk of pulmonary sarcoidosis (PS) and to estimate the transcription level of this gene in the carriers of different genotypes of this polymorphic marker. Subjects and methods. The investigation included 99 patients of Russian ethnicity (mean age, 45.41±1.31 years) living in the Republic of Karelia, who were diagnosed with persistent PS, and 116 healthy donors (mean age, 42.06±1.30 years) in the control group. The alleles and genotypes of the polymorphic marker -3279 C>A of the FOXP3 gene were identified using polymerase chain reaction (PCR)-restriction fragment length polymorphism. The number of transcripts of the studied gene in the peripheral blood leukocytes of healthy donors and PS patients was determined with real-time PCR. Results. The control group and the PS patient one had no statistically significant differences in the distribution of the frequencies of alleles and genotypes by the polymorphic marker –308G>A of the FOXP3 gene (p > 0.05). The number of FOXP3 gene transcripts was not statistically significantly different in the peripheral blood leukocytes of patients with PS and control individuals. No statistically significant differences were observed in the mRNA expression levels in the above-mentioned gene in the carriers of different genotypes by the polymorphic marker -3279 C>A of the FOXP3 gene in all examined groups. Conclusion. The polymorphic marker -3279 C>A of the FOXP3 gene is unassociated with the risk of PS.