Terapevticheskii arkhivTerapevticheskii arkhivТерапевтический архив0040-36602309-5342LLC Obyedinennaya Redaktsiya3233210.17116/terarkh2017891264-67Editorial articleПередовая статьяResearch ArticleAssociation of FOXP3 gene -3279 C>A polymorphism with the risk of pulmonary sarcoidosisАссоциация полиморфизма -3279 C>A гена FOXP3 с риском развития саркоидоза легкихMalyshevaI EМалышеваИ ЕTopchievaL VТопчиеваЛ ВTikhonovichE LТихоновичЭ ЛKurbatovaI VКурбатоваИ ВBalanO VБаланО ВФБГУН «Институт биологии Карельского научного центра РАНРеспубликанская больница им. В.А. Баранова151220178912VOL 89, NO12 (2017)ТОМ 89, №12 (2017)646710042020Copyright ©; 2017, Consilium MedicumCopyright ©; 2017, ООО "Консилиум Медикум"2017Consilium MedicumООО "Консилиум Медикум"https://creativecommons.org/licenses/by-nc-sa/4.0https://ter-arkhiv.ru/0040-3660/article/view/32332

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.

Резюме Цель исследования. Изучить связь полиморфного маркера –3279 C>A гена FOXP3 с риском развития саркоидоза легких (СЛ) и оценить уровень транскрипции этого гена у носителей разных генотипов по данному полиморфному маркеру. Материалы и методы. В исследование включили 99 пациентов русской национальности, проживающих в Республике Карелия, у которых установлен диагноз персистирующего СЛ (средний возраст 45,41±1,31 года) и 116 здоровых доноров контрольной группы (средний возраст 42,06±1,30 года). Идентификацию аллелей и генотипов полиморфного маркера –3279 С>A гена FOXP3 осуществляли с помощью полимеразной цепной реакции (ПЦР) с полиморфизмом длин рестриктивных фрагментов. Количество транскриптов исследуемого гена определяли в лейкоцитах периферической крови здоровых доноров и больных СЛ с помощью ПЦР в реальном времени. Результаты. Статистически значимых различий по распределению частот аллелей и генотипов по полиморфному маркеру –3279 С>A гена FOXP3 между контрольной группой и группой больных СЛ не выявлено (p>0,05). Количество транскриптов гена FOXP3 в лейкоцитах периферической крови больных СЛ по сравнению с контролем статистически значимо не различалось. Статистически значимых различий по уровню экспрессии мРНК указанного гена у носителей разных генотипов по –3279 С>A полиморфному маркеру гена FOXP3 во всех исследованных группах не выявлено. Заключение. Полиморфный маркер –3279 С>A гена FOXP3 не ассоциирован с риском развития СЛ.

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